Canonical Allele Identifier: CA399314541

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37884214G>C (hg19) ; chr17:g.39727961G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727961G>C , CM000679.2:g.39727961G>C	GRCh38
NC_000017.10:g.37884214G>C , CM000679.1:g.37884214G>C	GRCh37
NC_000017.9:g.35137740G>C	NCBI36
NG_007503.1:g.44822G>C , LRG_724:g.44822G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3685G>C MANE Select	ENSP00000269571.4:p.Glu1229Gln
ENST00000269571.9:c.3685G>C	ENSP00000269571.4:p.Glu1229Gln
ENST00000406381.6:c.3595G>C	ENSP00000385185.2:p.Glu1199Gln
ENST00000445658.6:c.2857G>C	ENSP00000404047.2:p.Glu953Gln
ENST00000541774.5:c.3640G>C	ENSP00000446466.1:p.Glu1214Gln
ENST00000578373.5:c.*3475G>C	ENSP00000463427.1:n.*3475G>C
ENST00000584450.5:c.*264G>C	ENSP00000463714.1:n.*264G>C
ENST00000584601.5:c.3595G>C	ENSP00000462438.1:p.Glu1199Gln
NM_001005862.2:c.3595G>C , LRG_724t1:c.3595G>C	NP_001005862.1:p.Glu1199Gln
NM_001289936.1:c.3640G>C , LRG_724t4:c.3640G>C	NP_001276865.1:p.Glu1214Gln
NM_001289937.1:c.*264G>C	NP_001276866.1:n.*264G>C
NM_004448.3:c.3685G>C , LRG_724t2:c.3685G>C	NP_004439.2:p.Glu1229Gln
NR_110535.1:n.4009G>C
XM_024450641.1:c.3823G>C	XP_024306409.1:p.Glu1275Gln
XM_024450642.1:c.3778G>C	XP_024306410.1:p.Glu1260Gln
XM_024450643.1:c.3733G>C	XP_024306411.1:p.Glu1245Gln
NM_001005862.3:c.3595G>C	NP_001005862.1:p.Glu1199Gln
NM_001289936.2:c.3640G>C	NP_001276865.1:p.Glu1214Gln
NM_001289937.2:c.*264G>C	NP_001276866.1:n.*264G>C
NM_001382782.1:c.3595G>C	NP_001369711.1:p.Glu1199Gln
NM_001382783.1:c.3595G>C	NP_001369712.1:p.Glu1199Gln
NM_001382784.1:c.3802G>C	NP_001369713.1:p.Glu1268Gln
NM_001382785.1:c.3787G>C	NP_001369714.1:p.Glu1263Gln
NM_001382786.1:c.3766G>C	NP_001369715.1:p.Glu1256Gln
NM_001382787.1:c.3760G>C	NP_001369716.1:p.Glu1254Gln
NM_001382788.1:c.3715G>C	NP_001369717.1:p.Glu1239Gln
NM_001382789.1:c.3706G>C	NP_001369718.1:p.Glu1236Gln
NM_001382790.1:c.3682G>C	NP_001369719.1:p.Glu1228Gln
NM_001382791.1:c.3676G>C	NP_001369720.1:p.Glu1226Gln
NM_001382792.1:c.3649G>C	NP_001369721.1:p.Glu1217Gln
NM_001382793.1:c.3643G>C	NP_001369722.1:p.Glu1215Gln
NM_001382794.1:c.3643G>C	NP_001369723.1:p.Glu1215Gln
NM_001382795.1:c.3637G>C	NP_001369724.1:p.Glu1213Gln
NM_001382796.1:c.3598G>C	NP_001369725.1:p.Glu1200Gln
NM_001382797.1:c.3586G>C	NP_001369726.1:p.Glu1196Gln
NM_001382798.1:c.3529G>C	NP_001369727.1:p.Glu1177Gln
NM_001382799.1:c.3505G>C	NP_001369728.1:p.Glu1169Gln
NM_001382800.1:c.3499G>C	NP_001369729.1:p.Glu1167Gln
NM_001382801.1:c.3481G>C	NP_001369730.1:p.Glu1161Gln
NM_001382802.1:c.3427G>C	NP_001369731.1:p.Glu1143Gln
NM_001382803.1:c.*264G>C	NP_001369732.1:n.*264G>C
NM_001382804.1:c.2857G>C	NP_001369733.1:p.Glu953Gln
NM_001382805.1:c.2734G>C	NP_001369734.1:p.Glu912Gln
NM_001382806.1:c.2647G>C	NP_001369735.1:p.Glu883Gln
NM_004448.4:c.3685G>C MANE Select	NP_004439.2:p.Glu1229Gln
NR_110535.2:n.3923G>C