Canonical Allele Identifier: CA399314260

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143311930
• gnomAD v4: 17-39727926-T-C
• MyVariant Identifiers: chr17:g.37884179T>C (hg19) ; chr17:g.39727926T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727926T>C , CM000679.2:g.39727926T>C	GRCh38
NC_000017.10:g.37884179T>C , CM000679.1:g.37884179T>C	GRCh37
NC_000017.9:g.35137705T>C	NCBI36
NG_007503.1:g.44787T>C , LRG_724:g.44787T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3650T>C MANE Select	ENSP00000269571.4:p.Phe1217Ser
ENST00000269571.9:c.3650T>C	ENSP00000269571.4:p.Phe1217Ser
ENST00000406381.6:c.3560T>C	ENSP00000385185.2:p.Phe1187Ser
ENST00000445658.6:c.2822T>C	ENSP00000404047.2:p.Phe941Ser
ENST00000541774.5:c.3605T>C	ENSP00000446466.1:p.Phe1202Ser
ENST00000578373.5:c.*3440T>C	ENSP00000463427.1:n.*3440T>C
ENST00000584450.5:c.*229T>C	ENSP00000463714.1:n.*229T>C
ENST00000584601.5:c.3560T>C	ENSP00000462438.1:p.Phe1187Ser
NM_001005862.2:c.3560T>C , LRG_724t1:c.3560T>C	NP_001005862.1:p.Phe1187Ser
NM_001289936.1:c.3605T>C , LRG_724t4:c.3605T>C	NP_001276865.1:p.Phe1202Ser
NM_001289937.1:c.*229T>C	NP_001276866.1:n.*229T>C
NM_004448.3:c.3650T>C , LRG_724t2:c.3650T>C	NP_004439.2:p.Phe1217Ser
NR_110535.1:n.3974T>C
XM_024450641.1:c.3788T>C	XP_024306409.1:p.Phe1263Ser
XM_024450642.1:c.3743T>C	XP_024306410.1:p.Phe1248Ser
XM_024450643.1:c.3698T>C	XP_024306411.1:p.Phe1233Ser
NM_001005862.3:c.3560T>C	NP_001005862.1:p.Phe1187Ser
NM_001289936.2:c.3605T>C	NP_001276865.1:p.Phe1202Ser
NM_001289937.2:c.*229T>C	NP_001276866.1:n.*229T>C
NM_001382782.1:c.3560T>C	NP_001369711.1:p.Phe1187Ser
NM_001382783.1:c.3560T>C	NP_001369712.1:p.Phe1187Ser
NM_001382784.1:c.3767T>C	NP_001369713.1:p.Phe1256Ser
NM_001382785.1:c.3752T>C	NP_001369714.1:p.Phe1251Ser
NM_001382786.1:c.3731T>C	NP_001369715.1:p.Phe1244Ser
NM_001382787.1:c.3725T>C	NP_001369716.1:p.Phe1242Ser
NM_001382788.1:c.3680T>C	NP_001369717.1:p.Phe1227Ser
NM_001382789.1:c.3671T>C	NP_001369718.1:p.Phe1224Ser
NM_001382790.1:c.3647T>C	NP_001369719.1:p.Phe1216Ser
NM_001382791.1:c.3641T>C	NP_001369720.1:p.Phe1214Ser
NM_001382792.1:c.3614T>C	NP_001369721.1:p.Phe1205Ser
NM_001382793.1:c.3608T>C	NP_001369722.1:p.Phe1203Ser
NM_001382794.1:c.3608T>C	NP_001369723.1:p.Phe1203Ser
NM_001382795.1:c.3602T>C	NP_001369724.1:p.Phe1201Ser
NM_001382796.1:c.3563T>C	NP_001369725.1:p.Phe1188Ser
NM_001382797.1:c.3551T>C	NP_001369726.1:p.Phe1184Ser
NM_001382798.1:c.3494T>C	NP_001369727.1:p.Phe1165Ser
NM_001382799.1:c.3470T>C	NP_001369728.1:p.Phe1157Ser
NM_001382800.1:c.3464T>C	NP_001369729.1:p.Phe1155Ser
NM_001382801.1:c.3446T>C	NP_001369730.1:p.Phe1149Ser
NM_001382802.1:c.3392T>C	NP_001369731.1:p.Phe1131Ser
NM_001382803.1:c.*229T>C	NP_001369732.1:n.*229T>C
NM_001382804.1:c.2822T>C	NP_001369733.1:p.Phe941Ser
NM_001382805.1:c.2699T>C	NP_001369734.1:p.Phe900Ser
NM_001382806.1:c.2612T>C	NP_001369735.1:p.Phe871Ser
NM_004448.4:c.3650T>C MANE Select	NP_004439.2:p.Phe1217Ser
NR_110535.2:n.3888T>C