chr17:39724744:GG>CT Detail (hg38) (ERBB2)

Information

Genome

Assembly Position
hg19 chr17:37,880,997-37,880,998 View the variant detail on this assembly version.
hg38 chr17:39,724,744-39,724,745

HGVS

Type Transcript Protein
RefSeq NM_004448.3:c.2326_2327delinsCT NP_004439.2:p.Gly776Leu
NM_001289937.1:c.2326_2327delinsCT NP_001276866.1:p.Gly776Leu
NM_001005862.2:c.2236_2237delinsCT NP_001005862.1:p.Gly746Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 164870 OMIM
HGNC 3430 HGNC
Ensembl ENSG00000141736 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung adenocarcinoma Afatinib C Predictive Supports Sensitivity/Response Somatic 3 22325357 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
A Phase II study for use of Afatinib in non- or light smokers with lung adenocarcinoma. Three patien... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr17:39,724,744-39,724,745
Variant Type
snv
Reference Allele
GG
Alternative Allele
CT
Variant (CIViC) (CIViC Variant)
G776L
Transcript 1 (CIViC Variant)
ENST00000269571.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/816
Genome browser