Canonical Allele Identifier: CA023991

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38043
• ClinVar RCV Id: RCV000031625 ; RCV000044934 ; RCV000160301 ; RCV000162930 ; RCV000240801 ; RCV000456954 ; RCV000677858 ; RCV001002337 ; RCV001271044 ; RCV001310128 ; RCV001642418 ; RCV001849286 ; RCV003162277
• dbSNP Id: rs80359584
• ExAC: 13:32914893 ATAACT / A
• gnomAD v2: 13-32914893-ATAACT-A
• gnomAD v3: 13-32340756-ATAACT-A
• gnomAD v4: 13-32340756-ATAACT-A
• MyVariant Identifiers: chr13:g.32914897_32914901del (hg19) ; chr13:g.32914894_32914898del (hg19) ; chr13:g.32340760_32340764del (hg38) ; chr13:g.32340757_32340761del (hg38)
• PubMed: PMID:8988179 ; PMID:9971877 ; PMID:11179017 ; PMID:17063270 ; PMID:17148771 ; PMID:18489799 ; PMID:20104584 ; PMID:21324516 ; PMID:21952622 ; PMID:25802882 ; PMID:26026974 ; PMID:26295337 ; PMID:27257965 ; PMID:27425403

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340760_32340764del , CM000675.2:g.32340760_32340764del	GRCh38
NC_000013.10:g.32914897_32914901del , CM000675.1:g.32914897_32914901del	GRCh37
NC_000013.9:g.31812897_31812901del	NCBI36
NG_012772.3:g.30281_30285del , LRG_293:g.30281_30285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6405_6409del	ENSP00000434898.2:p.Asn2135LysfsTer3
ENST00000528762.2:c.6405_6409del	ENSP00000433168.2:p.Asn2135LysfsTer3
ENST00000530893.7:c.6036_6040del	ENSP00000499438.2:p.Asn2012LysfsTer3
ENST00000665585.2:c.6405_6409del	ENSP00000499570.2:p.Asn2135LysfsTer3
ENST00000666593.2:c.6405_6409del	ENSP00000499256.2:p.Asn2135LysfsTer3
ENST00000700202.2:c.6405_6409del	ENSP00000514856.2:p.Asn2135LysfsTer3
ENST00000380152.8:c.6405_6409del MANE Select	ENSP00000369497.3:p.Asn2135LysfsTer3
ENST00000544455.6:c.6405_6409del	ENSP00000439902.1:p.Asn2135LysfsTer3
ENST00000614259.2:c.6405_6409del	ENSP00000506251.1:p.Asn2135LysfsTer3
ENST00000680887.1:c.6405_6409del	ENSP00000505508.1:p.Asn2135LysfsTer3
ENST00000380152.7:c.6405_6409del	ENSP00000369497.3:p.Asn2135LysfsTer3
ENST00000544455.5:c.6405_6409del	ENSP00000439902.1:p.Asn2135LysfsTer3
ENST00000614259.1:n.6405_6409del
NM_000059.3:c.6405_6409del , LRG_293t1:c.6405_6409del	NP_000050.2:p.Asn2135LysfsTer3
XM_011535203.1:c.6405_6409del	XP_011533505.1:p.Asn2135LysfsTer3
XM_011535204.1:c.6405_6409del	XP_011533506.1:p.Asn2135LysfsTer3
XM_011535205.1:c.6405_6409del	XP_011533507.1:p.Asn2135LysfsTer3
NM_000059.4:c.6405_6409del MANE Select	NP_000050.3:p.Asn2135LysfsTer3