Canonical Allele Identifier: CA399314054

Gene: ERBB2

Linked Data

• dbSNP Id: rs1597892991
• gnomAD v4: 17-39727899-A-C
• MyVariant Identifiers: chr17:g.37884152A>C (hg19) ; chr17:g.39727899A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3623A>C MANE Select	ENSP00000269571.4:p.His1208Pro
ENST00000269571.9:c.3623A>C	ENSP00000269571.4:p.His1208Pro
ENST00000406381.6:c.3533A>C	ENSP00000385185.2:p.His1178Pro
ENST00000445658.6:c.2795A>C	ENSP00000404047.2:p.His932Pro
ENST00000541774.5:c.3578A>C	ENSP00000446466.1:p.His1193Pro
ENST00000578373.5:c.*3413A>C	ENSP00000463427.1:n.*3413A>C
ENST00000584450.5:c.*202A>C	ENSP00000463714.1:n.*202A>C
ENST00000584601.5:c.3533A>C	ENSP00000462438.1:p.His1178Pro
NM_001005862.2:c.3533A>C , LRG_724t1:c.3533A>C	NP_001005862.1:p.His1178Pro
NM_001289936.1:c.3578A>C , LRG_724t4:c.3578A>C	NP_001276865.1:p.His1193Pro
NM_001289937.1:c.*202A>C	NP_001276866.1:n.*202A>C
NM_004448.3:c.3623A>C , LRG_724t2:c.3623A>C	NP_004439.2:p.His1208Pro
NR_110535.1:n.3947A>C
XM_024450641.1:c.3761A>C	XP_024306409.1:p.His1254Pro
XM_024450642.1:c.3716A>C	XP_024306410.1:p.His1239Pro
XM_024450643.1:c.3671A>C	XP_024306411.1:p.His1224Pro
NM_001005862.3:c.3533A>C	NP_001005862.1:p.His1178Pro
NM_001289936.2:c.3578A>C	NP_001276865.1:p.His1193Pro
NM_001289937.2:c.*202A>C	NP_001276866.1:n.*202A>C
NM_001382782.1:c.3533A>C	NP_001369711.1:p.His1178Pro
NM_001382783.1:c.3533A>C	NP_001369712.1:p.His1178Pro
NM_001382784.1:c.3740A>C	NP_001369713.1:p.His1247Pro
NM_001382785.1:c.3725A>C	NP_001369714.1:p.His1242Pro
NM_001382786.1:c.3704A>C	NP_001369715.1:p.His1235Pro
NM_001382787.1:c.3698A>C	NP_001369716.1:p.His1233Pro
NM_001382788.1:c.3653A>C	NP_001369717.1:p.His1218Pro
NM_001382789.1:c.3644A>C	NP_001369718.1:p.His1215Pro
NM_001382790.1:c.3620A>C	NP_001369719.1:p.His1207Pro
NM_001382791.1:c.3614A>C	NP_001369720.1:p.His1205Pro
NM_001382792.1:c.3587A>C	NP_001369721.1:p.His1196Pro
NM_001382793.1:c.3581A>C	NP_001369722.1:p.His1194Pro
NM_001382794.1:c.3581A>C	NP_001369723.1:p.His1194Pro
NM_001382795.1:c.3575A>C	NP_001369724.1:p.His1192Pro
NM_001382796.1:c.3536A>C	NP_001369725.1:p.His1179Pro
NM_001382797.1:c.3524A>C	NP_001369726.1:p.His1175Pro
NM_001382798.1:c.3467A>C	NP_001369727.1:p.His1156Pro
NM_001382799.1:c.3443A>C	NP_001369728.1:p.His1148Pro
NM_001382800.1:c.3437A>C	NP_001369729.1:p.His1146Pro
NM_001382801.1:c.3419A>C	NP_001369730.1:p.His1140Pro
NM_001382802.1:c.3365A>C	NP_001369731.1:p.His1122Pro
NM_001382803.1:c.*202A>C	NP_001369732.1:n.*202A>C
NM_001382804.1:c.2795A>C	NP_001369733.1:p.His932Pro
NM_001382805.1:c.2672A>C	NP_001369734.1:p.His891Pro
NM_001382806.1:c.2585A>C	NP_001369735.1:p.His862Pro
NM_004448.4:c.3623A>C MANE Select	NP_004439.2:p.His1208Pro
NR_110535.2:n.3861A>C