Canonical Allele Identifier: CA399313100

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 2994391
• ClinVar RCV Id: RCV003856030
• MyVariant Identifiers: chr17:g.37884022G>A (hg19) ; chr17:g.39727769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727769G>A , CM000679.2:g.39727769G>A	GRCh38
NC_000017.10:g.37884022G>A , CM000679.1:g.37884022G>A	GRCh37
NC_000017.9:g.35137548G>A	NCBI36
NG_007503.1:g.44630G>A , LRG_724:g.44630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3493G>A MANE Select	ENSP00000269571.4:p.Ala1165Thr
ENST00000269571.9:c.3493G>A	ENSP00000269571.4:p.Ala1165Thr
ENST00000406381.6:c.3403G>A	ENSP00000385185.2:p.Ala1135Thr
ENST00000445658.6:c.2665G>A	ENSP00000404047.2:p.Ala889Thr
ENST00000541774.5:c.3448G>A	ENSP00000446466.1:p.Ala1150Thr
ENST00000578373.5:c.*3283G>A	ENSP00000463427.1:n.*3283G>A
ENST00000584450.5:c.*72G>A	ENSP00000463714.1:n.*72G>A
ENST00000584601.5:c.3403G>A	ENSP00000462438.1:p.Ala1135Thr
NM_001005862.2:c.3403G>A , LRG_724t1:c.3403G>A	NP_001005862.1:p.Ala1135Thr
NM_001289936.1:c.3448G>A , LRG_724t4:c.3448G>A	NP_001276865.1:p.Ala1150Thr
NM_001289937.1:c.*72G>A	NP_001276866.1:n.*72G>A
NM_004448.3:c.3493G>A , LRG_724t2:c.3493G>A	NP_004439.2:p.Ala1165Thr
NR_110535.1:n.3817G>A
XM_024450641.1:c.3631G>A	XP_024306409.1:p.Ala1211Thr
XM_024450642.1:c.3586G>A	XP_024306410.1:p.Ala1196Thr
XM_024450643.1:c.3541G>A	XP_024306411.1:p.Ala1181Thr
NM_001005862.3:c.3403G>A	NP_001005862.1:p.Ala1135Thr
NM_001289936.2:c.3448G>A	NP_001276865.1:p.Ala1150Thr
NM_001289937.2:c.*72G>A	NP_001276866.1:n.*72G>A
NM_001382782.1:c.3403G>A	NP_001369711.1:p.Ala1135Thr
NM_001382783.1:c.3403G>A	NP_001369712.1:p.Ala1135Thr
NM_001382784.1:c.3610G>A	NP_001369713.1:p.Ala1204Thr
NM_001382785.1:c.3595G>A	NP_001369714.1:p.Ala1199Thr
NM_001382786.1:c.3574G>A	NP_001369715.1:p.Ala1192Thr
NM_001382787.1:c.3568G>A	NP_001369716.1:p.Ala1190Thr
NM_001382788.1:c.3523G>A	NP_001369717.1:p.Ala1175Thr
NM_001382789.1:c.3514G>A	NP_001369718.1:p.Ala1172Thr
NM_001382790.1:c.3490G>A	NP_001369719.1:p.Ala1164Thr
NM_001382791.1:c.3484G>A	NP_001369720.1:p.Ala1162Thr
NM_001382792.1:c.3457G>A	NP_001369721.1:p.Ala1153Thr
NM_001382793.1:c.3451G>A	NP_001369722.1:p.Ala1151Thr
NM_001382794.1:c.3451G>A	NP_001369723.1:p.Ala1151Thr
NM_001382795.1:c.3445G>A	NP_001369724.1:p.Ala1149Thr
NM_001382796.1:c.3406G>A	NP_001369725.1:p.Ala1136Thr
NM_001382797.1:c.3394G>A	NP_001369726.1:p.Ala1132Thr
NM_001382798.1:c.3337G>A	NP_001369727.1:p.Ala1113Thr
NM_001382799.1:c.3313G>A	NP_001369728.1:p.Ala1105Thr
NM_001382800.1:c.3307G>A	NP_001369729.1:p.Ala1103Thr
NM_001382801.1:c.3289G>A	NP_001369730.1:p.Ala1097Thr
NM_001382802.1:c.3235G>A	NP_001369731.1:p.Ala1079Thr
NM_001382803.1:c.*72G>A	NP_001369732.1:n.*72G>A
NM_001382804.1:c.2665G>A	NP_001369733.1:p.Ala889Thr
NM_001382805.1:c.2542G>A	NP_001369734.1:p.Ala848Thr
NM_001382806.1:c.2455G>A	NP_001369735.1:p.Ala819Thr
NM_004448.4:c.3493G>A MANE Select	NP_004439.2:p.Ala1165Thr
NR_110535.2:n.3731G>A