Canonical Allele Identifier: CA658656412

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462507
• ClinVar RCV Id: RCV000575221 ; RCV000538593
• dbSNP Id: rs80359733
• gnomAD v4: 13-32379503-GAA-G
• MyVariant Identifiers: chr13:g.32953644_32953645del (hg19) ; chr13:g.32379507_32379508del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379507_32379508del , CM000675.2:g.32379507_32379508del	GRCh38
NC_000013.10:g.32953644_32953645del , CM000675.1:g.32953644_32953645del	GRCh37
NC_000013.9:g.31851644_31851645del	NCBI36
NG_012772.3:g.69028_69029del , LRG_293:g.69028_69029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8945_8946del	ENSP00000434898.2:p.Lys2982ArgfsTer?
ENST00000528762.2:c.*312_*313del	ENSP00000433168.2:n.*312_*313del
ENST00000530893.7:c.8576_8577del	ENSP00000499438.2:p.Lys2859ArgfsTer?
ENST00000665585.2:c.*507_*508del	ENSP00000499570.2:n.*507_*508del
ENST00000666593.2:c.8945_8946del	ENSP00000499256.2:p.Lys2982ArgfsTer?
ENST00000700202.2:c.8945_8946del	ENSP00000514856.2:p.Lys2982ArgfsTer18
ENST00000700202.1:c.1412_1413del	ENSP00000514856.1:p.Lys471ArgfsTer18
ENST00000700203.1:n.1072_1073del
ENST00000380152.8:c.8945_8946del MANE Select	ENSP00000369497.3:p.Lys2982ArgfsTer?
ENST00000544455.6:c.8945_8946del	ENSP00000439902.1:p.Lys2982ArgfsTer?
ENST00000614259.2:c.8953_8954del	ENSP00000506251.1:n.8953_8954del
ENST00000665585.1:c.1823_1824del
ENST00000680887.1:c.8945_8946del	ENSP00000505508.1:p.Lys2982ArgfsTer?
ENST00000380152.7:c.8945_8946del	ENSP00000369497.3:p.Lys2982ArgfsTer?
ENST00000544455.5:c.8945_8946del	ENSP00000439902.1:p.Lys2982ArgfsTer?
NM_000059.3:c.8945_8946del , LRG_293t1:c.8945_8946del	NP_000050.2:p.Lys2982ArgfsTer?
XM_011535203.1:c.8945_8946del	XP_011533505.1:p.Lys2982ArgfsTer?
XM_011535204.1:c.8849_8850del	XP_011533506.1:p.Lys2950ArgfsTer?
XM_011535205.1:c.8755-243_8755-242del	XP_011533507.1:n.8755-243_8755-242del
NM_000059.4:c.8945_8946del MANE Select	NP_000050.3:p.Lys2982ArgfsTer?