Canonical Allele Identifier: CA290443227

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 2886799
• ClinVar RCV Id: RCV003722097
• dbSNP Id: rs1038581447
• gnomAD v2: 17-37883623-G-A
• gnomAD v3: 17-39727370-G-A
• gnomAD v4: 17-39727370-G-A
• COSMIC: COSM1251413
• MyVariant Identifiers: chr17:g.37883623G>A (hg19) ; chr17:g.39727370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727370G>A , CM000679.2:g.39727370G>A	GRCh38
NC_000017.10:g.37883623G>A , CM000679.1:g.37883623G>A	GRCh37
NC_000017.9:g.35137149G>A	NCBI36
NG_007503.1:g.44231G>A , LRG_724:g.44231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3235G>A MANE Select	ENSP00000269571.4:p.Glu1079Lys
ENST00000269571.9:c.3235G>A	ENSP00000269571.4:p.Glu1079Lys
ENST00000406381.6:c.3145G>A	ENSP00000385185.2:p.Glu1049Lys
ENST00000445658.6:c.2407G>A	ENSP00000404047.2:p.Glu803Lys
ENST00000541774.5:c.3190G>A	ENSP00000446466.1:p.Glu1064Lys
ENST00000578373.5:c.*3025G>A	ENSP00000463427.1:n.*3025G>A
ENST00000584450.5:c.3160-319G>A	ENSP00000463714.1:n.3160-319G>A
ENST00000584601.5:c.3145G>A	ENSP00000462438.1:p.Glu1049Lys
NM_001005862.2:c.3145G>A , LRG_724t1:c.3145G>A	NP_001005862.1:p.Glu1049Lys
NM_001289936.1:c.3190G>A , LRG_724t4:c.3190G>A	NP_001276865.1:p.Glu1064Lys
NM_001289937.1:c.3160-319G>A	NP_001276866.1:n.3160-319G>A
NM_004448.3:c.3235G>A , LRG_724t2:c.3235G>A	NP_004439.2:p.Glu1079Lys
NR_110535.1:n.3559G>A
XM_024450641.1:c.3373G>A	XP_024306409.1:p.Glu1125Lys
XM_024450642.1:c.3328G>A	XP_024306410.1:p.Glu1110Lys
XM_024450643.1:c.3283G>A	XP_024306411.1:p.Glu1095Lys
NM_001005862.3:c.3145G>A	NP_001005862.1:p.Glu1049Lys
NM_001289936.2:c.3190G>A	NP_001276865.1:p.Glu1064Lys
NM_001289937.2:c.3160-319G>A	NP_001276866.1:n.3160-319G>A
NM_001382782.1:c.3145G>A	NP_001369711.1:p.Glu1049Lys
NM_001382783.1:c.3145G>A	NP_001369712.1:p.Glu1049Lys
NM_001382784.1:c.3352G>A	NP_001369713.1:p.Glu1118Lys
NM_001382785.1:c.3337G>A	NP_001369714.1:p.Glu1113Lys
NM_001382786.1:c.3316G>A	NP_001369715.1:p.Glu1106Lys
NM_001382787.1:c.3310G>A	NP_001369716.1:p.Glu1104Lys
NM_001382788.1:c.3265G>A	NP_001369717.1:p.Glu1089Lys
NM_001382789.1:c.3256G>A	NP_001369718.1:p.Glu1086Lys
NM_001382790.1:c.3232G>A	NP_001369719.1:p.Glu1078Lys
NM_001382791.1:c.3226G>A	NP_001369720.1:p.Glu1076Lys
NM_001382792.1:c.3199G>A	NP_001369721.1:p.Glu1067Lys
NM_001382793.1:c.3193G>A	NP_001369722.1:p.Glu1065Lys
NM_001382794.1:c.3193G>A	NP_001369723.1:p.Glu1065Lys
NM_001382795.1:c.3187G>A	NP_001369724.1:p.Glu1063Lys
NM_001382796.1:c.3148G>A	NP_001369725.1:p.Glu1050Lys
NM_001382797.1:c.3136G>A	NP_001369726.1:p.Glu1046Lys
NM_001382798.1:c.3079G>A	NP_001369727.1:p.Glu1027Lys
NM_001382799.1:c.3055G>A	NP_001369728.1:p.Glu1019Lys
NM_001382800.1:c.3049G>A	NP_001369729.1:p.Glu1017Lys
NM_001382801.1:c.3031G>A	NP_001369730.1:p.Glu1011Lys
NM_001382802.1:c.2977G>A	NP_001369731.1:p.Glu993Lys
NM_001382803.1:c.3118-319G>A	NP_001369732.1:n.3118-319G>A
NM_001382804.1:c.2407G>A	NP_001369733.1:p.Glu803Lys
NM_001382805.1:c.2284G>A	NP_001369734.1:p.Glu762Lys
NM_001382806.1:c.2197G>A	NP_001369735.1:p.Glu733Lys
NM_004448.4:c.3235G>A MANE Select	NP_004439.2:p.Glu1079Lys
NR_110535.2:n.3473G>A