Canonical Allele Identifier: CA399314578

Gene: ERBB2

Linked Data

• dbSNP Id: rs2059872989
• gnomAD v3: 17-39727967-G-C
• gnomAD v4: 17-39727967-G-C
• MyVariant Identifiers: chr17:g.37884220G>C (hg19) ; chr17:g.39727967G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727967G>C , CM000679.2:g.39727967G>C	GRCh38
NC_000017.10:g.37884220G>C , CM000679.1:g.37884220G>C	GRCh37
NC_000017.9:g.35137746G>C	NCBI36
NG_007503.1:g.44828G>C , LRG_724:g.44828G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3691G>C MANE Select	ENSP00000269571.4:p.Gly1231Arg
ENST00000269571.9:c.3691G>C	ENSP00000269571.4:p.Gly1231Arg
ENST00000406381.6:c.3601G>C	ENSP00000385185.2:p.Gly1201Arg
ENST00000445658.6:c.2863G>C	ENSP00000404047.2:p.Gly955Arg
ENST00000541774.5:c.3646G>C	ENSP00000446466.1:p.Gly1216Arg
ENST00000578373.5:c.*3481G>C	ENSP00000463427.1:n.*3481G>C
ENST00000584450.5:c.*270G>C	ENSP00000463714.1:n.*270G>C
ENST00000584601.5:c.3601G>C	ENSP00000462438.1:p.Gly1201Arg
NM_001005862.2:c.3601G>C , LRG_724t1:c.3601G>C	NP_001005862.1:p.Gly1201Arg
NM_001289936.1:c.3646G>C , LRG_724t4:c.3646G>C	NP_001276865.1:p.Gly1216Arg
NM_001289937.1:c.*270G>C	NP_001276866.1:n.*270G>C
NM_004448.3:c.3691G>C , LRG_724t2:c.3691G>C	NP_004439.2:p.Gly1231Arg
NR_110535.1:n.4015G>C
XM_024450641.1:c.3829G>C	XP_024306409.1:p.Gly1277Arg
XM_024450642.1:c.3784G>C	XP_024306410.1:p.Gly1262Arg
XM_024450643.1:c.3739G>C	XP_024306411.1:p.Gly1247Arg
NM_001005862.3:c.3601G>C	NP_001005862.1:p.Gly1201Arg
NM_001289936.2:c.3646G>C	NP_001276865.1:p.Gly1216Arg
NM_001289937.2:c.*270G>C	NP_001276866.1:n.*270G>C
NM_001382782.1:c.3601G>C	NP_001369711.1:p.Gly1201Arg
NM_001382783.1:c.3601G>C	NP_001369712.1:p.Gly1201Arg
NM_001382784.1:c.3808G>C	NP_001369713.1:p.Gly1270Arg
NM_001382785.1:c.3793G>C	NP_001369714.1:p.Gly1265Arg
NM_001382786.1:c.3772G>C	NP_001369715.1:p.Gly1258Arg
NM_001382787.1:c.3766G>C	NP_001369716.1:p.Gly1256Arg
NM_001382788.1:c.3721G>C	NP_001369717.1:p.Gly1241Arg
NM_001382789.1:c.3712G>C	NP_001369718.1:p.Gly1238Arg
NM_001382790.1:c.3688G>C	NP_001369719.1:p.Gly1230Arg
NM_001382791.1:c.3682G>C	NP_001369720.1:p.Gly1228Arg
NM_001382792.1:c.3655G>C	NP_001369721.1:p.Gly1219Arg
NM_001382793.1:c.3649G>C	NP_001369722.1:p.Gly1217Arg
NM_001382794.1:c.3649G>C	NP_001369723.1:p.Gly1217Arg
NM_001382795.1:c.3643G>C	NP_001369724.1:p.Gly1215Arg
NM_001382796.1:c.3604G>C	NP_001369725.1:p.Gly1202Arg
NM_001382797.1:c.3592G>C	NP_001369726.1:p.Gly1198Arg
NM_001382798.1:c.3535G>C	NP_001369727.1:p.Gly1179Arg
NM_001382799.1:c.3511G>C	NP_001369728.1:p.Gly1171Arg
NM_001382800.1:c.3505G>C	NP_001369729.1:p.Gly1169Arg
NM_001382801.1:c.3487G>C	NP_001369730.1:p.Gly1163Arg
NM_001382802.1:c.3433G>C	NP_001369731.1:p.Gly1145Arg
NM_001382803.1:c.*270G>C	NP_001369732.1:n.*270G>C
NM_001382804.1:c.2863G>C	NP_001369733.1:p.Gly955Arg
NM_001382805.1:c.2740G>C	NP_001369734.1:p.Gly914Arg
NM_001382806.1:c.2653G>C	NP_001369735.1:p.Gly885Arg
NM_004448.4:c.3691G>C MANE Select	NP_004439.2:p.Gly1231Arg
NR_110535.2:n.3929G>C