Canonical Allele Identifier: CA8534589

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 2960027
• ClinVar RCV Id: RCV003814787
• dbSNP Id: rs779469693
• ExAC: 17:37884124 C / A
• gnomAD v2: 17-37884124-C-A
• gnomAD v3: 17-39727871-C-A
• gnomAD v4: 17-39727871-C-A
• COSMIC: COSM2152173
• MyVariant Identifiers: chr17:g.37884124C>A (hg19) ; chr17:g.39727871C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727871C>A , CM000679.2:g.39727871C>A	GRCh38
NC_000017.10:g.37884124C>A , CM000679.1:g.37884124C>A	GRCh37
NC_000017.9:g.35137650C>A	NCBI36
NG_007503.1:g.44732C>A , LRG_724:g.44732C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3595C>A MANE Select	ENSP00000269571.4:p.Pro1199Thr
ENST00000269571.9:c.3595C>A	ENSP00000269571.4:p.Pro1199Thr
ENST00000406381.6:c.3505C>A	ENSP00000385185.2:p.Pro1169Thr
ENST00000445658.6:c.2767C>A	ENSP00000404047.2:p.Pro923Thr
ENST00000541774.5:c.3550C>A	ENSP00000446466.1:p.Pro1184Thr
ENST00000578373.5:c.*3385C>A	ENSP00000463427.1:n.*3385C>A
ENST00000584450.5:c.*174C>A	ENSP00000463714.1:n.*174C>A
ENST00000584601.5:c.3505C>A	ENSP00000462438.1:p.Pro1169Thr
NM_001005862.2:c.3505C>A , LRG_724t1:c.3505C>A	NP_001005862.1:p.Pro1169Thr
NM_001289936.1:c.3550C>A , LRG_724t4:c.3550C>A	NP_001276865.1:p.Pro1184Thr
NM_001289937.1:c.*174C>A	NP_001276866.1:n.*174C>A
NM_004448.3:c.3595C>A , LRG_724t2:c.3595C>A	NP_004439.2:p.Pro1199Thr
NR_110535.1:n.3919C>A
XM_024450641.1:c.3733C>A	XP_024306409.1:p.Pro1245Thr
XM_024450642.1:c.3688C>A	XP_024306410.1:p.Pro1230Thr
XM_024450643.1:c.3643C>A	XP_024306411.1:p.Pro1215Thr
NM_001005862.3:c.3505C>A	NP_001005862.1:p.Pro1169Thr
NM_001289936.2:c.3550C>A	NP_001276865.1:p.Pro1184Thr
NM_001289937.2:c.*174C>A	NP_001276866.1:n.*174C>A
NM_001382782.1:c.3505C>A	NP_001369711.1:p.Pro1169Thr
NM_001382783.1:c.3505C>A	NP_001369712.1:p.Pro1169Thr
NM_001382784.1:c.3712C>A	NP_001369713.1:p.Pro1238Thr
NM_001382785.1:c.3697C>A	NP_001369714.1:p.Pro1233Thr
NM_001382786.1:c.3676C>A	NP_001369715.1:p.Pro1226Thr
NM_001382787.1:c.3670C>A	NP_001369716.1:p.Pro1224Thr
NM_001382788.1:c.3625C>A	NP_001369717.1:p.Pro1209Thr
NM_001382789.1:c.3616C>A	NP_001369718.1:p.Pro1206Thr
NM_001382790.1:c.3592C>A	NP_001369719.1:p.Pro1198Thr
NM_001382791.1:c.3586C>A	NP_001369720.1:p.Pro1196Thr
NM_001382792.1:c.3559C>A	NP_001369721.1:p.Pro1187Thr
NM_001382793.1:c.3553C>A	NP_001369722.1:p.Pro1185Thr
NM_001382794.1:c.3553C>A	NP_001369723.1:p.Pro1185Thr
NM_001382795.1:c.3547C>A	NP_001369724.1:p.Pro1183Thr
NM_001382796.1:c.3508C>A	NP_001369725.1:p.Pro1170Thr
NM_001382797.1:c.3496C>A	NP_001369726.1:p.Pro1166Thr
NM_001382798.1:c.3439C>A	NP_001369727.1:p.Pro1147Thr
NM_001382799.1:c.3415C>A	NP_001369728.1:p.Pro1139Thr
NM_001382800.1:c.3409C>A	NP_001369729.1:p.Pro1137Thr
NM_001382801.1:c.3391C>A	NP_001369730.1:p.Pro1131Thr
NM_001382802.1:c.3337C>A	NP_001369731.1:p.Pro1113Thr
NM_001382803.1:c.*174C>A	NP_001369732.1:n.*174C>A
NM_001382804.1:c.2767C>A	NP_001369733.1:p.Pro923Thr
NM_001382805.1:c.2644C>A	NP_001369734.1:p.Pro882Thr
NM_001382806.1:c.2557C>A	NP_001369735.1:p.Pro853Thr
NM_004448.4:c.3595C>A MANE Select	NP_004439.2:p.Pro1199Thr
NR_110535.2:n.3833C>A