Canonical Allele Identifier: CA399310451

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143240580
• COSMIC: COSM978680
• MyVariant Identifiers: chr17:g.37883626G>T (hg19) ; chr17:g.39727373G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727373G>T , CM000679.2:g.39727373G>T	GRCh38
NC_000017.10:g.37883626G>T , CM000679.1:g.37883626G>T	GRCh37
NC_000017.9:g.35137152G>T	NCBI36
NG_007503.1:g.44234G>T , LRG_724:g.44234G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3238G>T MANE Select	ENSP00000269571.4:p.Gly1080Trp
ENST00000269571.9:c.3238G>T	ENSP00000269571.4:p.Gly1080Trp
ENST00000406381.6:c.3148G>T	ENSP00000385185.2:p.Gly1050Trp
ENST00000445658.6:c.2410G>T	ENSP00000404047.2:p.Gly804Trp
ENST00000541774.5:c.3193G>T	ENSP00000446466.1:p.Gly1065Trp
ENST00000578373.5:c.*3028G>T	ENSP00000463427.1:n.*3028G>T
ENST00000584450.5:c.3160-316G>T	ENSP00000463714.1:n.3160-316G>T
ENST00000584601.5:c.3148G>T	ENSP00000462438.1:p.Gly1050Trp
NM_001005862.2:c.3148G>T , LRG_724t1:c.3148G>T	NP_001005862.1:p.Gly1050Trp
NM_001289936.1:c.3193G>T , LRG_724t4:c.3193G>T	NP_001276865.1:p.Gly1065Trp
NM_001289937.1:c.3160-316G>T	NP_001276866.1:n.3160-316G>T
NM_004448.3:c.3238G>T , LRG_724t2:c.3238G>T	NP_004439.2:p.Gly1080Trp
NR_110535.1:n.3562G>T
XM_024450641.1:c.3376G>T	XP_024306409.1:p.Gly1126Trp
XM_024450642.1:c.3331G>T	XP_024306410.1:p.Gly1111Trp
XM_024450643.1:c.3286G>T	XP_024306411.1:p.Gly1096Trp
NM_001005862.3:c.3148G>T	NP_001005862.1:p.Gly1050Trp
NM_001289936.2:c.3193G>T	NP_001276865.1:p.Gly1065Trp
NM_001289937.2:c.3160-316G>T	NP_001276866.1:n.3160-316G>T
NM_001382782.1:c.3148G>T	NP_001369711.1:p.Gly1050Trp
NM_001382783.1:c.3148G>T	NP_001369712.1:p.Gly1050Trp
NM_001382784.1:c.3355G>T	NP_001369713.1:p.Gly1119Trp
NM_001382785.1:c.3340G>T	NP_001369714.1:p.Gly1114Trp
NM_001382786.1:c.3319G>T	NP_001369715.1:p.Gly1107Trp
NM_001382787.1:c.3313G>T	NP_001369716.1:p.Gly1105Trp
NM_001382788.1:c.3268G>T	NP_001369717.1:p.Gly1090Trp
NM_001382789.1:c.3259G>T	NP_001369718.1:p.Gly1087Trp
NM_001382790.1:c.3235G>T	NP_001369719.1:p.Gly1079Trp
NM_001382791.1:c.3229G>T	NP_001369720.1:p.Gly1077Trp
NM_001382792.1:c.3202G>T	NP_001369721.1:p.Gly1068Trp
NM_001382793.1:c.3196G>T	NP_001369722.1:p.Gly1066Trp
NM_001382794.1:c.3196G>T	NP_001369723.1:p.Gly1066Trp
NM_001382795.1:c.3190G>T	NP_001369724.1:p.Gly1064Trp
NM_001382796.1:c.3151G>T	NP_001369725.1:p.Gly1051Trp
NM_001382797.1:c.3139G>T	NP_001369726.1:p.Gly1047Trp
NM_001382798.1:c.3082G>T	NP_001369727.1:p.Gly1028Trp
NM_001382799.1:c.3058G>T	NP_001369728.1:p.Gly1020Trp
NM_001382800.1:c.3052G>T	NP_001369729.1:p.Gly1018Trp
NM_001382801.1:c.3034G>T	NP_001369730.1:p.Gly1012Trp
NM_001382802.1:c.2980G>T	NP_001369731.1:p.Gly994Trp
NM_001382803.1:c.3118-316G>T	NP_001369732.1:n.3118-316G>T
NM_001382804.1:c.2410G>T	NP_001369733.1:p.Gly804Trp
NM_001382805.1:c.2287G>T	NP_001369734.1:p.Gly763Trp
NM_001382806.1:c.2200G>T	NP_001369735.1:p.Gly734Trp
NM_004448.4:c.3238G>T MANE Select	NP_004439.2:p.Gly1080Trp
NR_110535.2:n.3476G>T