Canonical Allele Identifier: CA2499222171

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1171988
• ClinVar RCV Id: RCV001525537
• dbSNP Id: rs2137507601

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338911_32338914del , CM000675.2:g.32338911_32338914del	GRCh38
NC_000013.10:g.32913048_32913051del , CM000675.1:g.32913048_32913051del	GRCh37
NC_000013.9:g.31811048_31811051del	NCBI36
NG_012772.3:g.28432_28435del , LRG_293:g.28432_28435del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.4556_4559del	ENSP00000434898.2:p.Pro1519LeufsTer23
ENST00000528762.2:c.4556_4559del	ENSP00000433168.2:p.Pro1519LeufsTer23
ENST00000530893.7:c.4187_4190del	ENSP00000499438.2:p.Pro1396LeufsTer23
ENST00000665585.2:c.4556_4559del	ENSP00000499570.2:p.Pro1519LeufsTer23
ENST00000666593.2:c.4556_4559del	ENSP00000499256.2:p.Pro1519LeufsTer23
ENST00000700202.2:c.4556_4559del	ENSP00000514856.2:p.Pro1519LeufsTer23
ENST00000380152.8:c.4556_4559del MANE Select	ENSP00000369497.3:p.Pro1519LeufsTer23
ENST00000544455.6:c.4556_4559del	ENSP00000439902.1:p.Pro1519LeufsTer23
ENST00000614259.2:c.4556_4559del	ENSP00000506251.1:p.Pro1519LeufsTer23
ENST00000680887.1:c.4556_4559del	ENSP00000505508.1:p.Pro1519LeufsTer23
ENST00000380152.7:c.4556_4559del	ENSP00000369497.3:p.Pro1519LeufsTer23
ENST00000544455.5:c.4556_4559del	ENSP00000439902.1:p.Pro1519LeufsTer23
ENST00000614259.1:n.4556_4559del
NM_000059.3:c.4556_4559del , LRG_293t1:c.4556_4559del	NP_000050.2:p.Pro1519LeufsTer23
XM_011535203.1:c.4556_4559del	XP_011533505.1:p.Pro1519LeufsTer23
XM_011535204.1:c.4556_4559del	XP_011533506.1:p.Pro1519LeufsTer23
XM_011535205.1:c.4556_4559del	XP_011533507.1:p.Pro1519LeufsTer23
NM_000059.4:c.4556_4559del MANE Select	NP_000050.3:p.Pro1519LeufsTer23