Canonical Allele Identifier: CA399312529

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143251251
• MyVariant Identifiers: chr17:g.37883716C>A (hg19) ; chr17:g.39727463C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727463C>A , CM000679.2:g.39727463C>A	GRCh38
NC_000017.10:g.37883716C>A , CM000679.1:g.37883716C>A	GRCh37
NC_000017.9:g.35137242C>A	NCBI36
NG_007503.1:g.44324C>A , LRG_724:g.44324C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3328C>A MANE Select	ENSP00000269571.4:p.Gln1110Lys
ENST00000269571.9:c.3328C>A	ENSP00000269571.4:p.Gln1110Lys
ENST00000406381.6:c.3238C>A	ENSP00000385185.2:p.Gln1080Lys
ENST00000445658.6:c.2500C>A	ENSP00000404047.2:p.Gln834Lys
ENST00000541774.5:c.3283C>A	ENSP00000446466.1:p.Gln1095Lys
ENST00000578373.5:c.*3118C>A	ENSP00000463427.1:n.*3118C>A
ENST00000584450.5:c.3160-226C>A	ENSP00000463714.1:n.3160-226C>A
ENST00000584601.5:c.3238C>A	ENSP00000462438.1:p.Gln1080Lys
NM_001005862.2:c.3238C>A , LRG_724t1:c.3238C>A	NP_001005862.1:p.Gln1080Lys
NM_001289936.1:c.3283C>A , LRG_724t4:c.3283C>A	NP_001276865.1:p.Gln1095Lys
NM_001289937.1:c.3160-226C>A	NP_001276866.1:n.3160-226C>A
NM_004448.3:c.3328C>A , LRG_724t2:c.3328C>A	NP_004439.2:p.Gln1110Lys
NR_110535.1:n.3652C>A
XM_024450641.1:c.3466C>A	XP_024306409.1:p.Gln1156Lys
XM_024450642.1:c.3421C>A	XP_024306410.1:p.Gln1141Lys
XM_024450643.1:c.3376C>A	XP_024306411.1:p.Gln1126Lys
NM_001005862.3:c.3238C>A	NP_001005862.1:p.Gln1080Lys
NM_001289936.2:c.3283C>A	NP_001276865.1:p.Gln1095Lys
NM_001289937.2:c.3160-226C>A	NP_001276866.1:n.3160-226C>A
NM_001382782.1:c.3238C>A	NP_001369711.1:p.Gln1080Lys
NM_001382783.1:c.3238C>A	NP_001369712.1:p.Gln1080Lys
NM_001382784.1:c.3445C>A	NP_001369713.1:p.Gln1149Lys
NM_001382785.1:c.3430C>A	NP_001369714.1:p.Gln1144Lys
NM_001382786.1:c.3409C>A	NP_001369715.1:p.Gln1137Lys
NM_001382787.1:c.3403C>A	NP_001369716.1:p.Gln1135Lys
NM_001382788.1:c.3358C>A	NP_001369717.1:p.Gln1120Lys
NM_001382789.1:c.3349C>A	NP_001369718.1:p.Gln1117Lys
NM_001382790.1:c.3325C>A	NP_001369719.1:p.Gln1109Lys
NM_001382791.1:c.3319C>A	NP_001369720.1:p.Gln1107Lys
NM_001382792.1:c.3292C>A	NP_001369721.1:p.Gln1098Lys
NM_001382793.1:c.3286C>A	NP_001369722.1:p.Gln1096Lys
NM_001382794.1:c.3286C>A	NP_001369723.1:p.Gln1096Lys
NM_001382795.1:c.3280C>A	NP_001369724.1:p.Gln1094Lys
NM_001382796.1:c.3241C>A	NP_001369725.1:p.Gln1081Lys
NM_001382797.1:c.3229C>A	NP_001369726.1:p.Gln1077Lys
NM_001382798.1:c.3172C>A	NP_001369727.1:p.Gln1058Lys
NM_001382799.1:c.3148C>A	NP_001369728.1:p.Gln1050Lys
NM_001382800.1:c.3142C>A	NP_001369729.1:p.Gln1048Lys
NM_001382801.1:c.3124C>A	NP_001369730.1:p.Gln1042Lys
NM_001382802.1:c.3070C>A	NP_001369731.1:p.Gln1024Lys
NM_001382803.1:c.3118-226C>A	NP_001369732.1:n.3118-226C>A
NM_001382804.1:c.2500C>A	NP_001369733.1:p.Gln834Lys
NM_001382805.1:c.2377C>A	NP_001369734.1:p.Gln793Lys
NM_001382806.1:c.2290C>A	NP_001369735.1:p.Gln764Lys
NM_004448.4:c.3328C>A MANE Select	NP_004439.2:p.Gln1110Lys
NR_110535.2:n.3566C>A