Canonical Allele Identifier: CA016132

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51331
• ClinVar RCV Id: RCV000044042 ; RCV000241251 ; RCV000456130 ; RCV002433530 ; RCV003483452 ; RCV003488362
• dbSNP Id: rs397507637
• gnomAD v4: 13-32337055-TC-T
• MyVariant Identifiers: chr13:g.32911193del (hg19) ; chr13:g.32337056del (hg38)
• PubMed: PMID:18176857

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337056del , CM000675.2:g.32337056del	GRCh38
NC_000013.10:g.32911193del , CM000675.1:g.32911193del	GRCh37
NC_000013.9:g.31809193del	NCBI36
NG_012772.3:g.26577del , LRG_293:g.26577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2701del	ENSP00000434898.2:p.Ala902LeufsTer2
ENST00000528762.2:c.2701del	ENSP00000433168.2:p.Ala902LeufsTer2
ENST00000530893.7:c.2332del	ENSP00000499438.2:p.Ala779LeufsTer2
ENST00000665585.2:c.2701del	ENSP00000499570.2:p.Ala902LeufsTer2
ENST00000666593.2:c.2701del	ENSP00000499256.2:p.Ala902LeufsTer2
ENST00000700202.2:c.2701del	ENSP00000514856.2:p.Ala902LeufsTer2
ENST00000380152.8:c.2701del MANE Select	ENSP00000369497.3:p.Ala902LeufsTer2
ENST00000544455.6:c.2701del	ENSP00000439902.1:p.Ala902LeufsTer2
ENST00000614259.2:c.2701del	ENSP00000506251.1:p.Ala902LeufsTer2
ENST00000680887.1:c.2701del	ENSP00000505508.1:p.Ala902LeufsTer2
ENST00000380152.7:c.2701del	ENSP00000369497.3:p.Ala902LeufsTer2
ENST00000544455.5:c.2701del	ENSP00000439902.1:p.Ala902LeufsTer2
ENST00000614259.1:n.2701del
NM_000059.3:c.2701del , LRG_293t1:c.2701del	NP_000050.2:p.Ala902LeufsTer2
XM_011535203.1:c.2701del	XP_011533505.1:p.Ala902LeufsTer2
XM_011535204.1:c.2701del	XP_011533506.1:p.Ala902LeufsTer2
XM_011535205.1:c.2701del	XP_011533507.1:p.Ala902LeufsTer2
NM_000059.4:c.2701del MANE Select	NP_000050.3:p.Ala902LeufsTer2