Canonical Allele Identifier: CA290444001

Gene: ERBB2

Linked Data

• dbSNP Id: rs867850628
• gnomAD v3: 17-39727859-G-A
• gnomAD v4: 17-39727859-G-A
• COSMIC: COSM5972167 ; COSM5972168
• MyVariant Identifiers: chr17:g.37884112G>A (hg19) ; chr17:g.39727859G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727859G>A , CM000679.2:g.39727859G>A	GRCh38
NC_000017.10:g.37884112G>A , CM000679.1:g.37884112G>A	GRCh37
NC_000017.9:g.35137638G>A	NCBI36
NG_007503.1:g.44720G>A , LRG_724:g.44720G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3583G>A MANE Select	ENSP00000269571.4:p.Glu1195Lys
ENST00000269571.9:c.3583G>A	ENSP00000269571.4:p.Glu1195Lys
ENST00000406381.6:c.3493G>A	ENSP00000385185.2:p.Glu1165Lys
ENST00000445658.6:c.2755G>A	ENSP00000404047.2:p.Glu919Lys
ENST00000541774.5:c.3538G>A	ENSP00000446466.1:p.Glu1180Lys
ENST00000578373.5:c.*3373G>A	ENSP00000463427.1:n.*3373G>A
ENST00000584450.5:c.*162G>A	ENSP00000463714.1:n.*162G>A
ENST00000584601.5:c.3493G>A	ENSP00000462438.1:p.Glu1165Lys
NM_001005862.2:c.3493G>A , LRG_724t1:c.3493G>A	NP_001005862.1:p.Glu1165Lys
NM_001289936.1:c.3538G>A , LRG_724t4:c.3538G>A	NP_001276865.1:p.Glu1180Lys
NM_001289937.1:c.*162G>A	NP_001276866.1:n.*162G>A
NM_004448.3:c.3583G>A , LRG_724t2:c.3583G>A	NP_004439.2:p.Glu1195Lys
NR_110535.1:n.3907G>A
XM_024450641.1:c.3721G>A	XP_024306409.1:p.Glu1241Lys
XM_024450642.1:c.3676G>A	XP_024306410.1:p.Glu1226Lys
XM_024450643.1:c.3631G>A	XP_024306411.1:p.Glu1211Lys
NM_001005862.3:c.3493G>A	NP_001005862.1:p.Glu1165Lys
NM_001289936.2:c.3538G>A	NP_001276865.1:p.Glu1180Lys
NM_001289937.2:c.*162G>A	NP_001276866.1:n.*162G>A
NM_001382782.1:c.3493G>A	NP_001369711.1:p.Glu1165Lys
NM_001382783.1:c.3493G>A	NP_001369712.1:p.Glu1165Lys
NM_001382784.1:c.3700G>A	NP_001369713.1:p.Glu1234Lys
NM_001382785.1:c.3685G>A	NP_001369714.1:p.Glu1229Lys
NM_001382786.1:c.3664G>A	NP_001369715.1:p.Glu1222Lys
NM_001382787.1:c.3658G>A	NP_001369716.1:p.Glu1220Lys
NM_001382788.1:c.3613G>A	NP_001369717.1:p.Glu1205Lys
NM_001382789.1:c.3604G>A	NP_001369718.1:p.Glu1202Lys
NM_001382790.1:c.3580G>A	NP_001369719.1:p.Glu1194Lys
NM_001382791.1:c.3574G>A	NP_001369720.1:p.Glu1192Lys
NM_001382792.1:c.3547G>A	NP_001369721.1:p.Glu1183Lys
NM_001382793.1:c.3541G>A	NP_001369722.1:p.Glu1181Lys
NM_001382794.1:c.3541G>A	NP_001369723.1:p.Glu1181Lys
NM_001382795.1:c.3535G>A	NP_001369724.1:p.Glu1179Lys
NM_001382796.1:c.3496G>A	NP_001369725.1:p.Glu1166Lys
NM_001382797.1:c.3484G>A	NP_001369726.1:p.Glu1162Lys
NM_001382798.1:c.3427G>A	NP_001369727.1:p.Glu1143Lys
NM_001382799.1:c.3403G>A	NP_001369728.1:p.Glu1135Lys
NM_001382800.1:c.3397G>A	NP_001369729.1:p.Glu1133Lys
NM_001382801.1:c.3379G>A	NP_001369730.1:p.Glu1127Lys
NM_001382802.1:c.3325G>A	NP_001369731.1:p.Glu1109Lys
NM_001382803.1:c.*162G>A	NP_001369732.1:n.*162G>A
NM_001382804.1:c.2755G>A	NP_001369733.1:p.Glu919Lys
NM_001382805.1:c.2632G>A	NP_001369734.1:p.Glu878Lys
NM_001382806.1:c.2545G>A	NP_001369735.1:p.Glu849Lys
NM_004448.4:c.3583G>A MANE Select	NP_004439.2:p.Glu1195Lys
NR_110535.2:n.3821G>A