AMHR2 anti-Mullerian hormone receptor type 2

Information
Symbol
AMHR2
Type
protein-coding
Description
anti-Mullerian hormone receptor type 2
Entrez Gene ID
269
Genome
hg19
Position
chr12:53,817,639-53,825,456
Genome
hg38
Position
chr12:53,423,855-53,431,672
MIM
600956 OMIM
HGNC
HGNC:465 HGNC
Ensembl
ENSG00000135409 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 32
Likely pathogenic 0 20
Benign 0 34
Likely benign 0 48
Conflicting classifications of pathogenicity 0 4
other 1 0
Uncertain significance 0 78
Ranking
ClinVar
0
0
26
166
18
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM AMHR
SYNONYM MISR2
SYNONYM MISRII
SYNONYM MRII
MIM 600956 OMIM
HGNC HGNC:465 HGNC
Ensembl ENSG00000135409 Ensembl
AllianceGenome HGNC:465
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000550311.5 hg38 chr12 53,423,866 53,431,473 7,608
ENST00000379791.7 hg38 chr12 53,423,935 53,431,473 7,539
ENST00000257863.9 hg38 chr12 53,423,855 53,431,672 7,818
ENST00000257863.9 hg19 chr12 53,817,639 53,825,456 7,818
ENST00000550311.5 hg19 chr12 53,817,650 53,825,257 7,608
ENST00000379791.7 hg19 chr12 53,817,719 53,825,257 7,539
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