Canonical Allele Identifier: CA399310677

Gene: ERBB2

Linked Data

• dbSNP Id: rs1597891828
• gnomAD v4: 17-39727415-G-A
• MyVariant Identifiers: chr17:g.37883668G>A (hg19) ; chr17:g.39727415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727415G>A , CM000679.2:g.39727415G>A	GRCh38
NC_000017.10:g.37883668G>A , CM000679.1:g.37883668G>A	GRCh37
NC_000017.9:g.35137194G>A	NCBI36
NG_007503.1:g.44276G>A , LRG_724:g.44276G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3280G>A MANE Select	ENSP00000269571.4:p.Ala1094Thr
ENST00000269571.9:c.3280G>A	ENSP00000269571.4:p.Ala1094Thr
ENST00000406381.6:c.3190G>A	ENSP00000385185.2:p.Ala1064Thr
ENST00000445658.6:c.2452G>A	ENSP00000404047.2:p.Ala818Thr
ENST00000541774.5:c.3235G>A	ENSP00000446466.1:p.Ala1079Thr
ENST00000578373.5:c.*3070G>A	ENSP00000463427.1:n.*3070G>A
ENST00000584450.5:c.3160-274G>A	ENSP00000463714.1:n.3160-274G>A
ENST00000584601.5:c.3190G>A	ENSP00000462438.1:p.Ala1064Thr
NM_001005862.2:c.3190G>A , LRG_724t1:c.3190G>A	NP_001005862.1:p.Ala1064Thr
NM_001289936.1:c.3235G>A , LRG_724t4:c.3235G>A	NP_001276865.1:p.Ala1079Thr
NM_001289937.1:c.3160-274G>A	NP_001276866.1:n.3160-274G>A
NM_004448.3:c.3280G>A , LRG_724t2:c.3280G>A	NP_004439.2:p.Ala1094Thr
NR_110535.1:n.3604G>A
XM_024450641.1:c.3418G>A	XP_024306409.1:p.Ala1140Thr
XM_024450642.1:c.3373G>A	XP_024306410.1:p.Ala1125Thr
XM_024450643.1:c.3328G>A	XP_024306411.1:p.Ala1110Thr
NM_001005862.3:c.3190G>A	NP_001005862.1:p.Ala1064Thr
NM_001289936.2:c.3235G>A	NP_001276865.1:p.Ala1079Thr
NM_001289937.2:c.3160-274G>A	NP_001276866.1:n.3160-274G>A
NM_001382782.1:c.3190G>A	NP_001369711.1:p.Ala1064Thr
NM_001382783.1:c.3190G>A	NP_001369712.1:p.Ala1064Thr
NM_001382784.1:c.3397G>A	NP_001369713.1:p.Ala1133Thr
NM_001382785.1:c.3382G>A	NP_001369714.1:p.Ala1128Thr
NM_001382786.1:c.3361G>A	NP_001369715.1:p.Ala1121Thr
NM_001382787.1:c.3355G>A	NP_001369716.1:p.Ala1119Thr
NM_001382788.1:c.3310G>A	NP_001369717.1:p.Ala1104Thr
NM_001382789.1:c.3301G>A	NP_001369718.1:p.Ala1101Thr
NM_001382790.1:c.3277G>A	NP_001369719.1:p.Ala1093Thr
NM_001382791.1:c.3271G>A	NP_001369720.1:p.Ala1091Thr
NM_001382792.1:c.3244G>A	NP_001369721.1:p.Ala1082Thr
NM_001382793.1:c.3238G>A	NP_001369722.1:p.Ala1080Thr
NM_001382794.1:c.3238G>A	NP_001369723.1:p.Ala1080Thr
NM_001382795.1:c.3232G>A	NP_001369724.1:p.Ala1078Thr
NM_001382796.1:c.3193G>A	NP_001369725.1:p.Ala1065Thr
NM_001382797.1:c.3181G>A	NP_001369726.1:p.Ala1061Thr
NM_001382798.1:c.3124G>A	NP_001369727.1:p.Ala1042Thr
NM_001382799.1:c.3100G>A	NP_001369728.1:p.Ala1034Thr
NM_001382800.1:c.3094G>A	NP_001369729.1:p.Ala1032Thr
NM_001382801.1:c.3076G>A	NP_001369730.1:p.Ala1026Thr
NM_001382802.1:c.3022G>A	NP_001369731.1:p.Ala1008Thr
NM_001382803.1:c.3118-274G>A	NP_001369732.1:n.3118-274G>A
NM_001382804.1:c.2452G>A	NP_001369733.1:p.Ala818Thr
NM_001382805.1:c.2329G>A	NP_001369734.1:p.Ala777Thr
NM_001382806.1:c.2242G>A	NP_001369735.1:p.Ala748Thr
NM_004448.4:c.3280G>A MANE Select	NP_004439.2:p.Ala1094Thr
NR_110535.2:n.3518G>A