Canonical Allele Identifier: CA158649

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 134080
• ClinVar RCV Id: RCV000120751
• dbSNP Id: rs587778268
• ExAC: 17:37883956 C / A
• gnomAD v2: 17-37883956-C-A
• gnomAD v3: 17-39727703-C-A
• gnomAD v4: 17-39727703-C-A
• MyVariant Identifiers: chr17:g.37883956C>A (hg19) ; chr17:g.39727703C>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727703C>A , CM000679.2:g.39727703C>A	GRCh38
NC_000017.10:g.37883956C>A , CM000679.1:g.37883956C>A	GRCh37
NC_000017.9:g.35137482C>A	NCBI36
NG_007503.1:g.44564C>A , LRG_724:g.44564C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.3427C>A MANE Select	ENSP00000269571.4:p.Pro1143Thr
ENST00000269571.9:c.3427C>A	ENSP00000269571.4:p.Pro1143Thr
ENST00000406381.6:c.3337C>A	ENSP00000385185.2:p.Pro1113Thr
ENST00000445658.6:c.2599C>A	ENSP00000404047.2:p.Pro867Thr
ENST00000541774.5:c.3382C>A	ENSP00000446466.1:p.Pro1128Thr
ENST00000578373.5:c.*3217C>A	ENSP00000463427.1:n.*3217C>A
ENST00000584450.5:c.*6C>A	ENSP00000463714.1:n.*6C>A
ENST00000584601.5:c.3337C>A	ENSP00000462438.1:p.Pro1113Thr
NM_001005862.2:c.3337C>A , LRG_724t1:c.3337C>A	NP_001005862.1:p.Pro1113Thr
NM_001289936.1:c.3382C>A , LRG_724t4:c.3382C>A	NP_001276865.1:p.Pro1128Thr
NM_001289937.1:c.*6C>A	NP_001276866.1:n.*6C>A
NM_004448.3:c.3427C>A , LRG_724t2:c.3427C>A	NP_004439.2:p.Pro1143Thr
NR_110535.1:n.3751C>A
XM_024450641.1:c.3565C>A	XP_024306409.1:p.Pro1189Thr
XM_024450642.1:c.3520C>A	XP_024306410.1:p.Pro1174Thr
XM_024450643.1:c.3475C>A	XP_024306411.1:p.Pro1159Thr
NM_001005862.3:c.3337C>A	NP_001005862.1:p.Pro1113Thr
NM_001289936.2:c.3382C>A	NP_001276865.1:p.Pro1128Thr
NM_001289937.2:c.*6C>A	NP_001276866.1:n.*6C>A
NM_001382782.1:c.3337C>A	NP_001369711.1:p.Pro1113Thr
NM_001382783.1:c.3337C>A	NP_001369712.1:p.Pro1113Thr
NM_001382784.1:c.3544C>A	NP_001369713.1:p.Pro1182Thr
NM_001382785.1:c.3529C>A	NP_001369714.1:p.Pro1177Thr
NM_001382786.1:c.3508C>A	NP_001369715.1:p.Pro1170Thr
NM_001382787.1:c.3502C>A	NP_001369716.1:p.Pro1168Thr
NM_001382788.1:c.3457C>A	NP_001369717.1:p.Pro1153Thr
NM_001382789.1:c.3448C>A	NP_001369718.1:p.Pro1150Thr
NM_001382790.1:c.3424C>A	NP_001369719.1:p.Pro1142Thr
NM_001382791.1:c.3418C>A	NP_001369720.1:p.Pro1140Thr
NM_001382792.1:c.3391C>A	NP_001369721.1:p.Pro1131Thr
NM_001382793.1:c.3385C>A	NP_001369722.1:p.Pro1129Thr
NM_001382794.1:c.3385C>A	NP_001369723.1:p.Pro1129Thr
NM_001382795.1:c.3379C>A	NP_001369724.1:p.Pro1127Thr
NM_001382796.1:c.3340C>A	NP_001369725.1:p.Pro1114Thr
NM_001382797.1:c.3328C>A	NP_001369726.1:p.Pro1110Thr
NM_001382798.1:c.3271C>A	NP_001369727.1:p.Pro1091Thr
NM_001382799.1:c.3247C>A	NP_001369728.1:p.Pro1083Thr
NM_001382800.1:c.3241C>A	NP_001369729.1:p.Pro1081Thr
NM_001382801.1:c.3223C>A	NP_001369730.1:p.Pro1075Thr
NM_001382802.1:c.3169C>A	NP_001369731.1:p.Pro1057Thr
NM_001382803.1:c.*6C>A	NP_001369732.1:n.*6C>A
NM_001382804.1:c.2599C>A	NP_001369733.1:p.Pro867Thr
NM_001382805.1:c.2476C>A	NP_001369734.1:p.Pro826Thr
NM_001382806.1:c.2389C>A	NP_001369735.1:p.Pro797Thr
NM_004448.4:c.3427C>A MANE Select	NP_004439.2:p.Pro1143Thr
NR_110535.2:n.3665C>A