Canonical Allele Identifier: CA8534528

Gene: ERBB2

Linked Data

• dbSNP Id: rs757332075
• ExAC: 17:37883755 G / A
• gnomAD v2: 17-37883755-G-A
• gnomAD v4: 17-39727502-G-A
• MyVariant Identifiers: chr17:g.37883755G>A (hg19) ; chr17:g.39727502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727502G>A , CM000679.2:g.39727502G>A	GRCh38
NC_000017.10:g.37883755G>A , CM000679.1:g.37883755G>A	GRCh37
NC_000017.9:g.35137281G>A	NCBI36
NG_007503.1:g.44363G>A , LRG_724:g.44363G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3367G>A MANE Select	ENSP00000269571.4:p.Glu1123Lys
ENST00000269571.9:c.3367G>A	ENSP00000269571.4:p.Glu1123Lys
ENST00000406381.6:c.3277G>A	ENSP00000385185.2:p.Glu1093Lys
ENST00000445658.6:c.2539G>A	ENSP00000404047.2:p.Glu847Lys
ENST00000541774.5:c.3322G>A	ENSP00000446466.1:p.Glu1108Lys
ENST00000578373.5:c.*3157G>A	ENSP00000463427.1:n.*3157G>A
ENST00000584450.5:c.3160-187G>A	ENSP00000463714.1:n.3160-187G>A
ENST00000584601.5:c.3277G>A	ENSP00000462438.1:p.Glu1093Lys
NM_001005862.2:c.3277G>A , LRG_724t1:c.3277G>A	NP_001005862.1:p.Glu1093Lys
NM_001289936.1:c.3322G>A , LRG_724t4:c.3322G>A	NP_001276865.1:p.Glu1108Lys
NM_001289937.1:c.3160-187G>A	NP_001276866.1:n.3160-187G>A
NM_004448.3:c.3367G>A , LRG_724t2:c.3367G>A	NP_004439.2:p.Glu1123Lys
NR_110535.1:n.3691G>A
XM_024450641.1:c.3505G>A	XP_024306409.1:p.Glu1169Lys
XM_024450642.1:c.3460G>A	XP_024306410.1:p.Glu1154Lys
XM_024450643.1:c.3415G>A	XP_024306411.1:p.Glu1139Lys
NM_001005862.3:c.3277G>A	NP_001005862.1:p.Glu1093Lys
NM_001289936.2:c.3322G>A	NP_001276865.1:p.Glu1108Lys
NM_001289937.2:c.3160-187G>A	NP_001276866.1:n.3160-187G>A
NM_001382782.1:c.3277G>A	NP_001369711.1:p.Glu1093Lys
NM_001382783.1:c.3277G>A	NP_001369712.1:p.Glu1093Lys
NM_001382784.1:c.3484G>A	NP_001369713.1:p.Glu1162Lys
NM_001382785.1:c.3469G>A	NP_001369714.1:p.Glu1157Lys
NM_001382786.1:c.3448G>A	NP_001369715.1:p.Glu1150Lys
NM_001382787.1:c.3442G>A	NP_001369716.1:p.Glu1148Lys
NM_001382788.1:c.3397G>A	NP_001369717.1:p.Glu1133Lys
NM_001382789.1:c.3388G>A	NP_001369718.1:p.Glu1130Lys
NM_001382790.1:c.3364G>A	NP_001369719.1:p.Glu1122Lys
NM_001382791.1:c.3358G>A	NP_001369720.1:p.Glu1120Lys
NM_001382792.1:c.3331G>A	NP_001369721.1:p.Glu1111Lys
NM_001382793.1:c.3325G>A	NP_001369722.1:p.Glu1109Lys
NM_001382794.1:c.3325G>A	NP_001369723.1:p.Glu1109Lys
NM_001382795.1:c.3319G>A	NP_001369724.1:p.Glu1107Lys
NM_001382796.1:c.3280G>A	NP_001369725.1:p.Glu1094Lys
NM_001382797.1:c.3268G>A	NP_001369726.1:p.Glu1090Lys
NM_001382798.1:c.3211G>A	NP_001369727.1:p.Glu1071Lys
NM_001382799.1:c.3187G>A	NP_001369728.1:p.Glu1063Lys
NM_001382800.1:c.3181G>A	NP_001369729.1:p.Glu1061Lys
NM_001382801.1:c.3163G>A	NP_001369730.1:p.Glu1055Lys
NM_001382802.1:c.3109G>A	NP_001369731.1:p.Glu1037Lys
NM_001382803.1:c.3118-187G>A	NP_001369732.1:n.3118-187G>A
NM_001382804.1:c.2539G>A	NP_001369733.1:p.Glu847Lys
NM_001382805.1:c.2416G>A	NP_001369734.1:p.Glu806Lys
NM_001382806.1:c.2329G>A	NP_001369735.1:p.Glu777Lys
NM_004448.4:c.3367G>A MANE Select	NP_004439.2:p.Glu1123Lys
NR_110535.2:n.3605G>A