Canonical Allele Identifier: CA010948

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51071
• ClinVar RCV Id: RCV000112884 ; RCV000562743 ; RCV000825612 ; RCV003473302
• dbSNP Id: rs80359265
• gnomAD v3: 13-32332621-CA-C
• gnomAD v4: 13-32332621-CA-C
• MyVariant Identifiers: chr13:g.32906762del (hg19) ; chr13:g.32332625del (hg38)
• PubMed: PMID:16683254

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32332625del , CM000675.2:g.32332625del	GRCh38
NC_000013.10:g.32906762del , CM000675.1:g.32906762del	GRCh37
NC_000013.9:g.31804762del	NCBI36
NG_012772.3:g.22146del , LRG_293:g.22146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1147del	ENSP00000434898.2:p.Ile383SerfsTer16
ENST00000528762.2:c.1147del	ENSP00000433168.2:p.Ile383SerfsTer16
ENST00000530893.7:c.778del	ENSP00000499438.2:p.Ile260SerfsTer16
ENST00000665585.2:c.1147del	ENSP00000499570.2:p.Ile383SerfsTer16
ENST00000666593.2:c.1147del	ENSP00000499256.2:p.Ile383SerfsTer16
ENST00000700202.2:c.1147del	ENSP00000514856.2:p.Ile383SerfsTer16
ENST00000700201.1:c.*926del	ENSP00000514855.1:n.*926del
ENST00000380152.8:c.1147del MANE Select	ENSP00000369497.3:p.Ile383SerfsTer16
ENST00000544455.6:c.1147del	ENSP00000439902.1:p.Ile383SerfsTer16
ENST00000614259.2:c.1147del	ENSP00000506251.1:p.Ile383SerfsTer16
ENST00000680887.1:c.1147del	ENSP00000505508.1:p.Ile383SerfsTer16
ENST00000380152.7:c.1147del	ENSP00000369497.3:p.Ile383SerfsTer16
ENST00000530893.6:n.1345del
ENST00000544455.5:c.1147del	ENSP00000439902.1:p.Ile383SerfsTer16
ENST00000614259.1:n.1147del
NM_000059.3:c.1147del , LRG_293t1:c.1147del	NP_000050.2:p.Ile383SerfsTer16
XM_011535203.1:c.1147del	XP_011533505.1:p.Ile383SerfsTer16
XM_011535204.1:c.1147del	XP_011533506.1:p.Ile383SerfsTer16
XM_011535205.1:c.1147del	XP_011533507.1:p.Ile383SerfsTer16
NM_000059.4:c.1147del MANE Select	NP_000050.3:p.Ile383SerfsTer16