Canonical Allele Identifier: CA399312638

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143254154
• MyVariant Identifiers: chr17:g.37883741T>C (hg19) ; chr17:g.39727488T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727488T>C , CM000679.2:g.39727488T>C	GRCh38
NC_000017.10:g.37883741T>C , CM000679.1:g.37883741T>C	GRCh37
NC_000017.9:g.35137267T>C	NCBI36
NG_007503.1:g.44349T>C , LRG_724:g.44349T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3353T>C MANE Select	ENSP00000269571.4:p.Val1118Ala
ENST00000269571.9:c.3353T>C	ENSP00000269571.4:p.Val1118Ala
ENST00000406381.6:c.3263T>C	ENSP00000385185.2:p.Val1088Ala
ENST00000445658.6:c.2525T>C	ENSP00000404047.2:p.Val842Ala
ENST00000541774.5:c.3308T>C	ENSP00000446466.1:p.Val1103Ala
ENST00000578373.5:c.*3143T>C	ENSP00000463427.1:n.*3143T>C
ENST00000584450.5:c.3160-201T>C	ENSP00000463714.1:n.3160-201T>C
ENST00000584601.5:c.3263T>C	ENSP00000462438.1:p.Val1088Ala
NM_001005862.2:c.3263T>C , LRG_724t1:c.3263T>C	NP_001005862.1:p.Val1088Ala
NM_001289936.1:c.3308T>C , LRG_724t4:c.3308T>C	NP_001276865.1:p.Val1103Ala
NM_001289937.1:c.3160-201T>C	NP_001276866.1:n.3160-201T>C
NM_004448.3:c.3353T>C , LRG_724t2:c.3353T>C	NP_004439.2:p.Val1118Ala
NR_110535.1:n.3677T>C
XM_024450641.1:c.3491T>C	XP_024306409.1:p.Val1164Ala
XM_024450642.1:c.3446T>C	XP_024306410.1:p.Val1149Ala
XM_024450643.1:c.3401T>C	XP_024306411.1:p.Val1134Ala
NM_001005862.3:c.3263T>C	NP_001005862.1:p.Val1088Ala
NM_001289936.2:c.3308T>C	NP_001276865.1:p.Val1103Ala
NM_001289937.2:c.3160-201T>C	NP_001276866.1:n.3160-201T>C
NM_001382782.1:c.3263T>C	NP_001369711.1:p.Val1088Ala
NM_001382783.1:c.3263T>C	NP_001369712.1:p.Val1088Ala
NM_001382784.1:c.3470T>C	NP_001369713.1:p.Val1157Ala
NM_001382785.1:c.3455T>C	NP_001369714.1:p.Val1152Ala
NM_001382786.1:c.3434T>C	NP_001369715.1:p.Val1145Ala
NM_001382787.1:c.3428T>C	NP_001369716.1:p.Val1143Ala
NM_001382788.1:c.3383T>C	NP_001369717.1:p.Val1128Ala
NM_001382789.1:c.3374T>C	NP_001369718.1:p.Val1125Ala
NM_001382790.1:c.3350T>C	NP_001369719.1:p.Val1117Ala
NM_001382791.1:c.3344T>C	NP_001369720.1:p.Val1115Ala
NM_001382792.1:c.3317T>C	NP_001369721.1:p.Val1106Ala
NM_001382793.1:c.3311T>C	NP_001369722.1:p.Val1104Ala
NM_001382794.1:c.3311T>C	NP_001369723.1:p.Val1104Ala
NM_001382795.1:c.3305T>C	NP_001369724.1:p.Val1102Ala
NM_001382796.1:c.3266T>C	NP_001369725.1:p.Val1089Ala
NM_001382797.1:c.3254T>C	NP_001369726.1:p.Val1085Ala
NM_001382798.1:c.3197T>C	NP_001369727.1:p.Val1066Ala
NM_001382799.1:c.3173T>C	NP_001369728.1:p.Val1058Ala
NM_001382800.1:c.3167T>C	NP_001369729.1:p.Val1056Ala
NM_001382801.1:c.3149T>C	NP_001369730.1:p.Val1050Ala
NM_001382802.1:c.3095T>C	NP_001369731.1:p.Val1032Ala
NM_001382803.1:c.3118-201T>C	NP_001369732.1:n.3118-201T>C
NM_001382804.1:c.2525T>C	NP_001369733.1:p.Val842Ala
NM_001382805.1:c.2402T>C	NP_001369734.1:p.Val801Ala
NM_001382806.1:c.2315T>C	NP_001369735.1:p.Val772Ala
NM_004448.4:c.3353T>C MANE Select	NP_004439.2:p.Val1118Ala
NR_110535.2:n.3591T>C