Canonical Allele Identifier: CA399313423

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143299916
• MyVariant Identifiers: chr17:g.37884068T>C (hg19) ; chr17:g.39727815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727815T>C , CM000679.2:g.39727815T>C	GRCh38
NC_000017.10:g.37884068T>C , CM000679.1:g.37884068T>C	GRCh37
NC_000017.9:g.35137594T>C	NCBI36
NG_007503.1:g.44676T>C , LRG_724:g.44676T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3539T>C MANE Select	ENSP00000269571.4:p.Val1180Ala
ENST00000269571.9:c.3539T>C	ENSP00000269571.4:p.Val1180Ala
ENST00000406381.6:c.3449T>C	ENSP00000385185.2:p.Val1150Ala
ENST00000445658.6:c.2711T>C	ENSP00000404047.2:p.Val904Ala
ENST00000541774.5:c.3494T>C	ENSP00000446466.1:p.Val1165Ala
ENST00000578373.5:c.*3329T>C	ENSP00000463427.1:n.*3329T>C
ENST00000584450.5:c.*118T>C	ENSP00000463714.1:n.*118T>C
ENST00000584601.5:c.3449T>C	ENSP00000462438.1:p.Val1150Ala
NM_001005862.2:c.3449T>C , LRG_724t1:c.3449T>C	NP_001005862.1:p.Val1150Ala
NM_001289936.1:c.3494T>C , LRG_724t4:c.3494T>C	NP_001276865.1:p.Val1165Ala
NM_001289937.1:c.*118T>C	NP_001276866.1:n.*118T>C
NM_004448.3:c.3539T>C , LRG_724t2:c.3539T>C	NP_004439.2:p.Val1180Ala
NR_110535.1:n.3863T>C
XM_024450641.1:c.3677T>C	XP_024306409.1:p.Val1226Ala
XM_024450642.1:c.3632T>C	XP_024306410.1:p.Val1211Ala
XM_024450643.1:c.3587T>C	XP_024306411.1:p.Val1196Ala
NM_001005862.3:c.3449T>C	NP_001005862.1:p.Val1150Ala
NM_001289936.2:c.3494T>C	NP_001276865.1:p.Val1165Ala
NM_001289937.2:c.*118T>C	NP_001276866.1:n.*118T>C
NM_001382782.1:c.3449T>C	NP_001369711.1:p.Val1150Ala
NM_001382783.1:c.3449T>C	NP_001369712.1:p.Val1150Ala
NM_001382784.1:c.3656T>C	NP_001369713.1:p.Val1219Ala
NM_001382785.1:c.3641T>C	NP_001369714.1:p.Val1214Ala
NM_001382786.1:c.3620T>C	NP_001369715.1:p.Val1207Ala
NM_001382787.1:c.3614T>C	NP_001369716.1:p.Val1205Ala
NM_001382788.1:c.3569T>C	NP_001369717.1:p.Val1190Ala
NM_001382789.1:c.3560T>C	NP_001369718.1:p.Val1187Ala
NM_001382790.1:c.3536T>C	NP_001369719.1:p.Val1179Ala
NM_001382791.1:c.3530T>C	NP_001369720.1:p.Val1177Ala
NM_001382792.1:c.3503T>C	NP_001369721.1:p.Val1168Ala
NM_001382793.1:c.3497T>C	NP_001369722.1:p.Val1166Ala
NM_001382794.1:c.3497T>C	NP_001369723.1:p.Val1166Ala
NM_001382795.1:c.3491T>C	NP_001369724.1:p.Val1164Ala
NM_001382796.1:c.3452T>C	NP_001369725.1:p.Val1151Ala
NM_001382797.1:c.3440T>C	NP_001369726.1:p.Val1147Ala
NM_001382798.1:c.3383T>C	NP_001369727.1:p.Val1128Ala
NM_001382799.1:c.3359T>C	NP_001369728.1:p.Val1120Ala
NM_001382800.1:c.3353T>C	NP_001369729.1:p.Val1118Ala
NM_001382801.1:c.3335T>C	NP_001369730.1:p.Val1112Ala
NM_001382802.1:c.3281T>C	NP_001369731.1:p.Val1094Ala
NM_001382803.1:c.*118T>C	NP_001369732.1:n.*118T>C
NM_001382804.1:c.2711T>C	NP_001369733.1:p.Val904Ala
NM_001382805.1:c.2588T>C	NP_001369734.1:p.Val863Ala
NM_001382806.1:c.2501T>C	NP_001369735.1:p.Val834Ala
NM_004448.4:c.3539T>C MANE Select	NP_004439.2:p.Val1180Ala
NR_110535.2:n.3777T>C