Canonical Allele Identifier: CA399314059

Gene: ERBB2

Linked Data

• dbSNP Id: rs1597892991
• MyVariant Identifiers: chr17:g.37884152A>T (hg19) ; chr17:g.39727899A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727899A>T , CM000679.2:g.39727899A>T	GRCh38
NC_000017.10:g.37884152A>T , CM000679.1:g.37884152A>T	GRCh37
NC_000017.9:g.35137678A>T	NCBI36
NG_007503.1:g.44760A>T , LRG_724:g.44760A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3623A>T MANE Select	ENSP00000269571.4:p.His1208Leu
ENST00000269571.9:c.3623A>T	ENSP00000269571.4:p.His1208Leu
ENST00000406381.6:c.3533A>T	ENSP00000385185.2:p.His1178Leu
ENST00000445658.6:c.2795A>T	ENSP00000404047.2:p.His932Leu
ENST00000541774.5:c.3578A>T	ENSP00000446466.1:p.His1193Leu
ENST00000578373.5:c.*3413A>T	ENSP00000463427.1:n.*3413A>T
ENST00000584450.5:c.*202A>T	ENSP00000463714.1:n.*202A>T
ENST00000584601.5:c.3533A>T	ENSP00000462438.1:p.His1178Leu
NM_001005862.2:c.3533A>T , LRG_724t1:c.3533A>T	NP_001005862.1:p.His1178Leu
NM_001289936.1:c.3578A>T , LRG_724t4:c.3578A>T	NP_001276865.1:p.His1193Leu
NM_001289937.1:c.*202A>T	NP_001276866.1:n.*202A>T
NM_004448.3:c.3623A>T , LRG_724t2:c.3623A>T	NP_004439.2:p.His1208Leu
NR_110535.1:n.3947A>T
XM_024450641.1:c.3761A>T	XP_024306409.1:p.His1254Leu
XM_024450642.1:c.3716A>T	XP_024306410.1:p.His1239Leu
XM_024450643.1:c.3671A>T	XP_024306411.1:p.His1224Leu
NM_001005862.3:c.3533A>T	NP_001005862.1:p.His1178Leu
NM_001289936.2:c.3578A>T	NP_001276865.1:p.His1193Leu
NM_001289937.2:c.*202A>T	NP_001276866.1:n.*202A>T
NM_001382782.1:c.3533A>T	NP_001369711.1:p.His1178Leu
NM_001382783.1:c.3533A>T	NP_001369712.1:p.His1178Leu
NM_001382784.1:c.3740A>T	NP_001369713.1:p.His1247Leu
NM_001382785.1:c.3725A>T	NP_001369714.1:p.His1242Leu
NM_001382786.1:c.3704A>T	NP_001369715.1:p.His1235Leu
NM_001382787.1:c.3698A>T	NP_001369716.1:p.His1233Leu
NM_001382788.1:c.3653A>T	NP_001369717.1:p.His1218Leu
NM_001382789.1:c.3644A>T	NP_001369718.1:p.His1215Leu
NM_001382790.1:c.3620A>T	NP_001369719.1:p.His1207Leu
NM_001382791.1:c.3614A>T	NP_001369720.1:p.His1205Leu
NM_001382792.1:c.3587A>T	NP_001369721.1:p.His1196Leu
NM_001382793.1:c.3581A>T	NP_001369722.1:p.His1194Leu
NM_001382794.1:c.3581A>T	NP_001369723.1:p.His1194Leu
NM_001382795.1:c.3575A>T	NP_001369724.1:p.His1192Leu
NM_001382796.1:c.3536A>T	NP_001369725.1:p.His1179Leu
NM_001382797.1:c.3524A>T	NP_001369726.1:p.His1175Leu
NM_001382798.1:c.3467A>T	NP_001369727.1:p.His1156Leu
NM_001382799.1:c.3443A>T	NP_001369728.1:p.His1148Leu
NM_001382800.1:c.3437A>T	NP_001369729.1:p.His1146Leu
NM_001382801.1:c.3419A>T	NP_001369730.1:p.His1140Leu
NM_001382802.1:c.3365A>T	NP_001369731.1:p.His1122Leu
NM_001382803.1:c.*202A>T	NP_001369732.1:n.*202A>T
NM_001382804.1:c.2795A>T	NP_001369733.1:p.His932Leu
NM_001382805.1:c.2672A>T	NP_001369734.1:p.His891Leu
NM_001382806.1:c.2585A>T	NP_001369735.1:p.His862Leu
NM_004448.4:c.3623A>T MANE Select	NP_004439.2:p.His1208Leu
NR_110535.2:n.3861A>T