Canonical Allele Identifier: CA399310695

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143246241
• gnomAD v4: 17-39727418-G-A
• MyVariant Identifiers: chr17:g.37883671G>A (hg19) ; chr17:g.39727418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727418G>A , CM000679.2:g.39727418G>A	GRCh38
NC_000017.10:g.37883671G>A , CM000679.1:g.37883671G>A	GRCh37
NC_000017.9:g.35137197G>A	NCBI36
NG_007503.1:g.44279G>A , LRG_724:g.44279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3283G>A MANE Select	ENSP00000269571.4:p.Ala1095Thr
ENST00000269571.9:c.3283G>A	ENSP00000269571.4:p.Ala1095Thr
ENST00000406381.6:c.3193G>A	ENSP00000385185.2:p.Ala1065Thr
ENST00000445658.6:c.2455G>A	ENSP00000404047.2:p.Ala819Thr
ENST00000541774.5:c.3238G>A	ENSP00000446466.1:p.Ala1080Thr
ENST00000578373.5:c.*3073G>A	ENSP00000463427.1:n.*3073G>A
ENST00000584450.5:c.3160-271G>A	ENSP00000463714.1:n.3160-271G>A
ENST00000584601.5:c.3193G>A	ENSP00000462438.1:p.Ala1065Thr
NM_001005862.2:c.3193G>A , LRG_724t1:c.3193G>A	NP_001005862.1:p.Ala1065Thr
NM_001289936.1:c.3238G>A , LRG_724t4:c.3238G>A	NP_001276865.1:p.Ala1080Thr
NM_001289937.1:c.3160-271G>A	NP_001276866.1:n.3160-271G>A
NM_004448.3:c.3283G>A , LRG_724t2:c.3283G>A	NP_004439.2:p.Ala1095Thr
NR_110535.1:n.3607G>A
XM_024450641.1:c.3421G>A	XP_024306409.1:p.Ala1141Thr
XM_024450642.1:c.3376G>A	XP_024306410.1:p.Ala1126Thr
XM_024450643.1:c.3331G>A	XP_024306411.1:p.Ala1111Thr
NM_001005862.3:c.3193G>A	NP_001005862.1:p.Ala1065Thr
NM_001289936.2:c.3238G>A	NP_001276865.1:p.Ala1080Thr
NM_001289937.2:c.3160-271G>A	NP_001276866.1:n.3160-271G>A
NM_001382782.1:c.3193G>A	NP_001369711.1:p.Ala1065Thr
NM_001382783.1:c.3193G>A	NP_001369712.1:p.Ala1065Thr
NM_001382784.1:c.3400G>A	NP_001369713.1:p.Ala1134Thr
NM_001382785.1:c.3385G>A	NP_001369714.1:p.Ala1129Thr
NM_001382786.1:c.3364G>A	NP_001369715.1:p.Ala1122Thr
NM_001382787.1:c.3358G>A	NP_001369716.1:p.Ala1120Thr
NM_001382788.1:c.3313G>A	NP_001369717.1:p.Ala1105Thr
NM_001382789.1:c.3304G>A	NP_001369718.1:p.Ala1102Thr
NM_001382790.1:c.3280G>A	NP_001369719.1:p.Ala1094Thr
NM_001382791.1:c.3274G>A	NP_001369720.1:p.Ala1092Thr
NM_001382792.1:c.3247G>A	NP_001369721.1:p.Ala1083Thr
NM_001382793.1:c.3241G>A	NP_001369722.1:p.Ala1081Thr
NM_001382794.1:c.3241G>A	NP_001369723.1:p.Ala1081Thr
NM_001382795.1:c.3235G>A	NP_001369724.1:p.Ala1079Thr
NM_001382796.1:c.3196G>A	NP_001369725.1:p.Ala1066Thr
NM_001382797.1:c.3184G>A	NP_001369726.1:p.Ala1062Thr
NM_001382798.1:c.3127G>A	NP_001369727.1:p.Ala1043Thr
NM_001382799.1:c.3103G>A	NP_001369728.1:p.Ala1035Thr
NM_001382800.1:c.3097G>A	NP_001369729.1:p.Ala1033Thr
NM_001382801.1:c.3079G>A	NP_001369730.1:p.Ala1027Thr
NM_001382802.1:c.3025G>A	NP_001369731.1:p.Ala1009Thr
NM_001382803.1:c.3118-271G>A	NP_001369732.1:n.3118-271G>A
NM_001382804.1:c.2455G>A	NP_001369733.1:p.Ala819Thr
NM_001382805.1:c.2332G>A	NP_001369734.1:p.Ala778Thr
NM_001382806.1:c.2245G>A	NP_001369735.1:p.Ala749Thr
NM_004448.4:c.3283G>A MANE Select	NP_004439.2:p.Ala1095Thr
NR_110535.2:n.3521G>A