Canonical Allele Identifier: CA399312534

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143251344
• MyVariant Identifiers: chr17:g.37883717A>T (hg19) ; chr17:g.39727464A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727464A>T , CM000679.2:g.39727464A>T	GRCh38
NC_000017.10:g.37883717A>T , CM000679.1:g.37883717A>T	GRCh37
NC_000017.9:g.35137243A>T	NCBI36
NG_007503.1:g.44325A>T , LRG_724:g.44325A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3329A>T MANE Select	ENSP00000269571.4:p.Gln1110Leu
ENST00000269571.9:c.3329A>T	ENSP00000269571.4:p.Gln1110Leu
ENST00000406381.6:c.3239A>T	ENSP00000385185.2:p.Gln1080Leu
ENST00000445658.6:c.2501A>T	ENSP00000404047.2:p.Gln834Leu
ENST00000541774.5:c.3284A>T	ENSP00000446466.1:p.Gln1095Leu
ENST00000578373.5:c.*3119A>T	ENSP00000463427.1:n.*3119A>T
ENST00000584450.5:c.3160-225A>T	ENSP00000463714.1:n.3160-225A>T
ENST00000584601.5:c.3239A>T	ENSP00000462438.1:p.Gln1080Leu
NM_001005862.2:c.3239A>T , LRG_724t1:c.3239A>T	NP_001005862.1:p.Gln1080Leu
NM_001289936.1:c.3284A>T , LRG_724t4:c.3284A>T	NP_001276865.1:p.Gln1095Leu
NM_001289937.1:c.3160-225A>T	NP_001276866.1:n.3160-225A>T
NM_004448.3:c.3329A>T , LRG_724t2:c.3329A>T	NP_004439.2:p.Gln1110Leu
NR_110535.1:n.3653A>T
XM_024450641.1:c.3467A>T	XP_024306409.1:p.Gln1156Leu
XM_024450642.1:c.3422A>T	XP_024306410.1:p.Gln1141Leu
XM_024450643.1:c.3377A>T	XP_024306411.1:p.Gln1126Leu
NM_001005862.3:c.3239A>T	NP_001005862.1:p.Gln1080Leu
NM_001289936.2:c.3284A>T	NP_001276865.1:p.Gln1095Leu
NM_001289937.2:c.3160-225A>T	NP_001276866.1:n.3160-225A>T
NM_001382782.1:c.3239A>T	NP_001369711.1:p.Gln1080Leu
NM_001382783.1:c.3239A>T	NP_001369712.1:p.Gln1080Leu
NM_001382784.1:c.3446A>T	NP_001369713.1:p.Gln1149Leu
NM_001382785.1:c.3431A>T	NP_001369714.1:p.Gln1144Leu
NM_001382786.1:c.3410A>T	NP_001369715.1:p.Gln1137Leu
NM_001382787.1:c.3404A>T	NP_001369716.1:p.Gln1135Leu
NM_001382788.1:c.3359A>T	NP_001369717.1:p.Gln1120Leu
NM_001382789.1:c.3350A>T	NP_001369718.1:p.Gln1117Leu
NM_001382790.1:c.3326A>T	NP_001369719.1:p.Gln1109Leu
NM_001382791.1:c.3320A>T	NP_001369720.1:p.Gln1107Leu
NM_001382792.1:c.3293A>T	NP_001369721.1:p.Gln1098Leu
NM_001382793.1:c.3287A>T	NP_001369722.1:p.Gln1096Leu
NM_001382794.1:c.3287A>T	NP_001369723.1:p.Gln1096Leu
NM_001382795.1:c.3281A>T	NP_001369724.1:p.Gln1094Leu
NM_001382796.1:c.3242A>T	NP_001369725.1:p.Gln1081Leu
NM_001382797.1:c.3230A>T	NP_001369726.1:p.Gln1077Leu
NM_001382798.1:c.3173A>T	NP_001369727.1:p.Gln1058Leu
NM_001382799.1:c.3149A>T	NP_001369728.1:p.Gln1050Leu
NM_001382800.1:c.3143A>T	NP_001369729.1:p.Gln1048Leu
NM_001382801.1:c.3125A>T	NP_001369730.1:p.Gln1042Leu
NM_001382802.1:c.3071A>T	NP_001369731.1:p.Gln1024Leu
NM_001382803.1:c.3118-225A>T	NP_001369732.1:n.3118-225A>T
NM_001382804.1:c.2501A>T	NP_001369733.1:p.Gln834Leu
NM_001382805.1:c.2378A>T	NP_001369734.1:p.Gln793Leu
NM_001382806.1:c.2291A>T	NP_001369735.1:p.Gln764Leu
NM_004448.4:c.3329A>T MANE Select	NP_004439.2:p.Gln1110Leu
NR_110535.2:n.3567A>T