Canonical Allele Identifier: CA8534281

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 2717487
• ClinVar RCV Id: RCV003548806
• dbSNP Id: rs144434331
• ExAC: 17:37880998 G / C
• gnomAD v2: 17-37880998-G-C
• gnomAD v4: 17-39724745-G-C
• MyVariant Identifiers: chr17:g.37880998G>C (hg19) ; chr17:g.39724745G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724745G>C , CM000679.2:g.39724745G>C	GRCh38
NC_000017.10:g.37880998G>C , CM000679.1:g.37880998G>C	GRCh37
NC_000017.9:g.35134524G>C	NCBI36
NG_007503.1:g.41606G>C , LRG_724:g.41606G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2327G>C MANE Select	ENSP00000269571.4:p.Gly776Ala
ENST00000269571.9:c.2327G>C	ENSP00000269571.4:p.Gly776Ala
ENST00000406381.6:c.2237G>C	ENSP00000385185.2:p.Gly746Ala
ENST00000445658.6:c.1499G>C	ENSP00000404047.2:p.Gly500Ala
ENST00000541774.5:c.2282G>C	ENSP00000446466.1:p.Gly761Ala
ENST00000578373.5:c.*2117G>C	ENSP00000463427.1:n.*2117G>C
ENST00000580074.1:c.433G>C
ENST00000583038.5:n.3461G>C
ENST00000584450.5:c.2327G>C	ENSP00000463714.1:p.Gly776Ala
ENST00000584601.5:c.2237G>C	ENSP00000462438.1:p.Gly746Ala
NM_001005862.2:c.2237G>C , LRG_724t1:c.2237G>C	NP_001005862.1:p.Gly746Ala
NM_001289936.1:c.2282G>C , LRG_724t4:c.2282G>C	NP_001276865.1:p.Gly761Ala
NM_001289937.1:c.2327G>C	NP_001276866.1:p.Gly776Ala
NM_004448.3:c.2327G>C , LRG_724t2:c.2327G>C	NP_004439.2:p.Gly776Ala
NR_110535.1:n.2651G>C
XM_024450641.1:c.2465G>C	XP_024306409.1:p.Gly822Ala
XM_024450642.1:c.2420G>C	XP_024306410.1:p.Gly807Ala
XM_024450643.1:c.2375G>C	XP_024306411.1:p.Gly792Ala
NM_001005862.3:c.2237G>C	NP_001005862.1:p.Gly746Ala
NM_001289936.2:c.2282G>C	NP_001276865.1:p.Gly761Ala
NM_001289937.2:c.2327G>C	NP_001276866.1:p.Gly776Ala
NM_001382782.1:c.2237G>C	NP_001369711.1:p.Gly746Ala
NM_001382783.1:c.2237G>C	NP_001369712.1:p.Gly746Ala
NM_001382784.1:c.2444G>C	NP_001369713.1:p.Gly815Ala
NM_001382785.1:c.2429G>C	NP_001369714.1:p.Gly810Ala
NM_001382786.1:c.2408G>C	NP_001369715.1:p.Gly803Ala
NM_001382787.1:c.2402G>C	NP_001369716.1:p.Gly801Ala
NM_001382788.1:c.2357G>C	NP_001369717.1:p.Gly786Ala
NM_001382789.1:c.2348G>C	NP_001369718.1:p.Gly783Ala
NM_001382790.1:c.2324G>C	NP_001369719.1:p.Gly775Ala
NM_001382791.1:c.2318G>C	NP_001369720.1:p.Gly773Ala
NM_001382792.1:c.2291G>C	NP_001369721.1:p.Gly764Ala
NM_001382793.1:c.2285G>C	NP_001369722.1:p.Gly762Ala
NM_001382794.1:c.2285G>C	NP_001369723.1:p.Gly762Ala
NM_001382795.1:c.2279G>C	NP_001369724.1:p.Gly760Ala
NM_001382796.1:c.2327G>C	NP_001369725.1:p.Gly776Ala
NM_001382797.1:c.2228G>C	NP_001369726.1:p.Gly743Ala
NM_001382798.1:c.2327G>C	NP_001369727.1:p.Gly776Ala
NM_001382799.1:c.2147G>C	NP_001369728.1:p.Gly716Ala
NM_001382800.1:c.2308-304G>C	NP_001369729.1:n.2308-304G>C
NM_001382801.1:c.2279G>C	NP_001369730.1:p.Gly760Ala
NM_001382802.1:c.2069G>C	NP_001369731.1:p.Gly690Ala
NM_001382803.1:c.2285G>C	NP_001369732.1:p.Gly762Ala
NM_001382804.1:c.1499G>C	NP_001369733.1:p.Gly500Ala
NM_001382805.1:c.2208+1085G>C	NP_001369734.1:n.2208+1085G>C
NM_001382806.1:c.1289G>C	NP_001369735.1:p.Gly430Ala
NM_004448.4:c.2327G>C MANE Select	NP_004439.2:p.Gly776Ala
NR_110535.2:n.2565G>C