Canonical Allele Identifier: CA399310288

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143237051
• COSMIC: COSM3988975
• MyVariant Identifiers: chr17:g.37883597C>T (hg19) ; chr17:g.39727344C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727344C>T , CM000679.2:g.39727344C>T	GRCh38
NC_000017.10:g.37883597C>T , CM000679.1:g.37883597C>T	GRCh37
NC_000017.9:g.35137123C>T	NCBI36
NG_007503.1:g.44205C>T , LRG_724:g.44205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3209C>T MANE Select	ENSP00000269571.4:p.Ala1070Val
ENST00000269571.9:c.3209C>T	ENSP00000269571.4:p.Ala1070Val
ENST00000406381.6:c.3119C>T	ENSP00000385185.2:p.Ala1040Val
ENST00000445658.6:c.2381C>T	ENSP00000404047.2:p.Ala794Val
ENST00000541774.5:c.3164C>T	ENSP00000446466.1:p.Ala1055Val
ENST00000578373.5:c.*2999C>T	ENSP00000463427.1:n.*2999C>T
ENST00000584450.5:c.3159+341C>T	ENSP00000463714.1:n.3159+341C>T
ENST00000584601.5:c.3119C>T	ENSP00000462438.1:p.Ala1040Val
NM_001005862.2:c.3119C>T , LRG_724t1:c.3119C>T	NP_001005862.1:p.Ala1040Val
NM_001289936.1:c.3164C>T , LRG_724t4:c.3164C>T	NP_001276865.1:p.Ala1055Val
NM_001289937.1:c.3159+341C>T	NP_001276866.1:n.3159+341C>T
NM_004448.3:c.3209C>T , LRG_724t2:c.3209C>T	NP_004439.2:p.Ala1070Val
NR_110535.1:n.3533C>T
XM_024450641.1:c.3347C>T	XP_024306409.1:p.Ala1116Val
XM_024450642.1:c.3302C>T	XP_024306410.1:p.Ala1101Val
XM_024450643.1:c.3257C>T	XP_024306411.1:p.Ala1086Val
NM_001005862.3:c.3119C>T	NP_001005862.1:p.Ala1040Val
NM_001289936.2:c.3164C>T	NP_001276865.1:p.Ala1055Val
NM_001289937.2:c.3159+341C>T	NP_001276866.1:n.3159+341C>T
NM_001382782.1:c.3119C>T	NP_001369711.1:p.Ala1040Val
NM_001382783.1:c.3119C>T	NP_001369712.1:p.Ala1040Val
NM_001382784.1:c.3326C>T	NP_001369713.1:p.Ala1109Val
NM_001382785.1:c.3311C>T	NP_001369714.1:p.Ala1104Val
NM_001382786.1:c.3290C>T	NP_001369715.1:p.Ala1097Val
NM_001382787.1:c.3284C>T	NP_001369716.1:p.Ala1095Val
NM_001382788.1:c.3239C>T	NP_001369717.1:p.Ala1080Val
NM_001382789.1:c.3230C>T	NP_001369718.1:p.Ala1077Val
NM_001382790.1:c.3206C>T	NP_001369719.1:p.Ala1069Val
NM_001382791.1:c.3200C>T	NP_001369720.1:p.Ala1067Val
NM_001382792.1:c.3173C>T	NP_001369721.1:p.Ala1058Val
NM_001382793.1:c.3167C>T	NP_001369722.1:p.Ala1056Val
NM_001382794.1:c.3167C>T	NP_001369723.1:p.Ala1056Val
NM_001382795.1:c.3161C>T	NP_001369724.1:p.Ala1054Val
NM_001382796.1:c.3122C>T	NP_001369725.1:p.Ala1041Val
NM_001382797.1:c.3110C>T	NP_001369726.1:p.Ala1037Val
NM_001382798.1:c.3053C>T	NP_001369727.1:p.Ala1018Val
NM_001382799.1:c.3029C>T	NP_001369728.1:p.Ala1010Val
NM_001382800.1:c.3023C>T	NP_001369729.1:p.Ala1008Val
NM_001382801.1:c.3005C>T	NP_001369730.1:p.Ala1002Val
NM_001382802.1:c.2951C>T	NP_001369731.1:p.Ala984Val
NM_001382803.1:c.3117+341C>T	NP_001369732.1:n.3117+341C>T
NM_001382804.1:c.2381C>T	NP_001369733.1:p.Ala794Val
NM_001382805.1:c.2258C>T	NP_001369734.1:p.Ala753Val
NM_001382806.1:c.2171C>T	NP_001369735.1:p.Ala724Val
NM_004448.4:c.3209C>T MANE Select	NP_004439.2:p.Ala1070Val
NR_110535.2:n.3447C>T