Canonical Allele Identifier: CA013129

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51187
• ClinVar RCV Id: RCV000043877 ; RCV000077264 ; RCV000074515 ; RCV000131054 ; RCV000254640
• dbSNP Id: rs80359303
• gnomAD v4: 13-32333238-CAAAT-C
• MyVariant Identifiers: chr13:g.32907378_32907381del (hg19) ; chr13:g.32333241_32333244del (hg38)
• PubMed: PMID:12942367 ; PMID:20960228 ; PMID:23635950 ; PMID:24156927

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333241_32333244del , CM000675.2:g.32333241_32333244del	GRCh38
NC_000013.10:g.32907378_32907381del , CM000675.1:g.32907378_32907381del	GRCh37
NC_000013.9:g.31805378_31805381del	NCBI36
NG_012772.3:g.22762_22765del , LRG_293:g.22762_22765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1763_1766del	ENSP00000434898.2:p.Asn588SerfsTer25
ENST00000528762.2:c.1763_1766del	ENSP00000433168.2:p.Asn588SerfsTer25
ENST00000530893.7:c.1394_1397del	ENSP00000499438.2:p.Asn465SerfsTer25
ENST00000665585.2:c.1763_1766del	ENSP00000499570.2:p.Asn588SerfsTer25
ENST00000666593.2:c.1763_1766del	ENSP00000499256.2:p.Asn588SerfsTer25
ENST00000700202.2:c.1763_1766del	ENSP00000514856.2:p.Asn588SerfsTer25
ENST00000700201.1:c.*1542_*1545del	ENSP00000514855.1:n.*1542_*1545del
ENST00000380152.8:c.1763_1766del MANE Select	ENSP00000369497.3:p.Asn588SerfsTer25
ENST00000544455.6:c.1763_1766del	ENSP00000439902.1:p.Asn588SerfsTer25
ENST00000614259.2:c.1763_1766del	ENSP00000506251.1:p.Asn588SerfsTer25
ENST00000680887.1:c.1763_1766del	ENSP00000505508.1:p.Asn588SerfsTer25
ENST00000380152.7:c.1763_1766del	ENSP00000369497.3:p.Asn588SerfsTer25
ENST00000530893.6:n.1961_1964del
ENST00000544455.5:c.1763_1766del	ENSP00000439902.1:p.Asn588SerfsTer25
ENST00000614259.1:n.1763_1766del
NM_000059.3:c.1763_1766del , LRG_293t1:c.1763_1766del	NP_000050.2:p.Asn588SerfsTer25
XM_011535203.1:c.1763_1766del	XP_011533505.1:p.Asn588SerfsTer25
XM_011535204.1:c.1763_1766del	XP_011533506.1:p.Asn588SerfsTer25
XM_011535205.1:c.1763_1766del	XP_011533507.1:p.Asn588SerfsTer25
NM_000059.4:c.1763_1766del MANE Select	NP_000050.3:p.Asn588SerfsTer25