Canonical Allele Identifier: CA399312885

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727720-G-C
• MyVariant Identifiers: chr17:g.37883973G>C (hg19) ; chr17:g.39727720G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727720G>C , CM000679.2:g.39727720G>C	GRCh38
NC_000017.10:g.37883973G>C , CM000679.1:g.37883973G>C	GRCh37
NC_000017.9:g.35137499G>C	NCBI36
NG_007503.1:g.44581G>C , LRG_724:g.44581G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3444G>C MANE Select	ENSP00000269571.4:p.Gln1148His
ENST00000269571.9:c.3444G>C	ENSP00000269571.4:p.Gln1148His
ENST00000406381.6:c.3354G>C	ENSP00000385185.2:p.Gln1118His
ENST00000445658.6:c.2616G>C	ENSP00000404047.2:p.Gln872His
ENST00000541774.5:c.3399G>C	ENSP00000446466.1:p.Gln1133His
ENST00000578373.5:c.*3234G>C	ENSP00000463427.1:n.*3234G>C
ENST00000584450.5:c.*23G>C	ENSP00000463714.1:n.*23G>C
ENST00000584601.5:c.3354G>C	ENSP00000462438.1:p.Gln1118His
NM_001005862.2:c.3354G>C , LRG_724t1:c.3354G>C	NP_001005862.1:p.Gln1118His
NM_001289936.1:c.3399G>C , LRG_724t4:c.3399G>C	NP_001276865.1:p.Gln1133His
NM_001289937.1:c.*23G>C	NP_001276866.1:n.*23G>C
NM_004448.3:c.3444G>C , LRG_724t2:c.3444G>C	NP_004439.2:p.Gln1148His
NR_110535.1:n.3768G>C
XM_024450641.1:c.3582G>C	XP_024306409.1:p.Gln1194His
XM_024450642.1:c.3537G>C	XP_024306410.1:p.Gln1179His
XM_024450643.1:c.3492G>C	XP_024306411.1:p.Gln1164His
NM_001005862.3:c.3354G>C	NP_001005862.1:p.Gln1118His
NM_001289936.2:c.3399G>C	NP_001276865.1:p.Gln1133His
NM_001289937.2:c.*23G>C	NP_001276866.1:n.*23G>C
NM_001382782.1:c.3354G>C	NP_001369711.1:p.Gln1118His
NM_001382783.1:c.3354G>C	NP_001369712.1:p.Gln1118His
NM_001382784.1:c.3561G>C	NP_001369713.1:p.Gln1187His
NM_001382785.1:c.3546G>C	NP_001369714.1:p.Gln1182His
NM_001382786.1:c.3525G>C	NP_001369715.1:p.Gln1175His
NM_001382787.1:c.3519G>C	NP_001369716.1:p.Gln1173His
NM_001382788.1:c.3474G>C	NP_001369717.1:p.Gln1158His
NM_001382789.1:c.3465G>C	NP_001369718.1:p.Gln1155His
NM_001382790.1:c.3441G>C	NP_001369719.1:p.Gln1147His
NM_001382791.1:c.3435G>C	NP_001369720.1:p.Gln1145His
NM_001382792.1:c.3408G>C	NP_001369721.1:p.Gln1136His
NM_001382793.1:c.3402G>C	NP_001369722.1:p.Gln1134His
NM_001382794.1:c.3402G>C	NP_001369723.1:p.Gln1134His
NM_001382795.1:c.3396G>C	NP_001369724.1:p.Gln1132His
NM_001382796.1:c.3357G>C	NP_001369725.1:p.Gln1119His
NM_001382797.1:c.3345G>C	NP_001369726.1:p.Gln1115His
NM_001382798.1:c.3288G>C	NP_001369727.1:p.Gln1096His
NM_001382799.1:c.3264G>C	NP_001369728.1:p.Gln1088His
NM_001382800.1:c.3258G>C	NP_001369729.1:p.Gln1086His
NM_001382801.1:c.3240G>C	NP_001369730.1:p.Gln1080His
NM_001382802.1:c.3186G>C	NP_001369731.1:p.Gln1062His
NM_001382803.1:c.*23G>C	NP_001369732.1:n.*23G>C
NM_001382804.1:c.2616G>C	NP_001369733.1:p.Gln872His
NM_001382805.1:c.2493G>C	NP_001369734.1:p.Gln831His
NM_001382806.1:c.2406G>C	NP_001369735.1:p.Gln802His
NM_004448.4:c.3444G>C MANE Select	NP_004439.2:p.Gln1148His
NR_110535.2:n.3682G>C