Canonical Allele Identifier: CA915948613

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 801126
• ClinVar RCV Id: RCV000985611
• dbSNP Id: rs1593936898

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379476_32379479dup , CM000675.2:g.32379476_32379479dup	GRCh38
NC_000013.10:g.32953613_32953616dup , CM000675.1:g.32953613_32953616dup	GRCh37
NC_000013.9:g.31851613_31851616dup	NCBI36
NG_012772.3:g.68997_69000dup , LRG_293:g.68997_69000dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8914_8917dup	ENSP00000434898.2:p.Arg2973LeufsTer?
ENST00000528762.2:c.*281_*284dup	ENSP00000433168.2:n.*281_*284dup
ENST00000530893.7:c.8545_8548dup	ENSP00000499438.2:p.Arg2850LeufsTer?
ENST00000665585.2:c.*476_*479dup	ENSP00000499570.2:n.*476_*479dup
ENST00000666593.2:c.8914_8917dup	ENSP00000499256.2:p.Arg2973LeufsTer?
ENST00000700202.2:c.8914_8917dup	ENSP00000514856.2:p.Arg2973LeufsTer29
ENST00000700202.1:c.1381_1384dup	ENSP00000514856.1:p.Arg462LeufsTer29
ENST00000700203.1:n.1041_1044dup
ENST00000380152.8:c.8914_8917dup MANE Select	ENSP00000369497.3:p.Arg2973LeufsTer?
ENST00000544455.6:c.8914_8917dup	ENSP00000439902.1:p.Arg2973LeufsTer?
ENST00000614259.2:c.8922_8925dup	ENSP00000506251.1:n.8922_8925dup
ENST00000665585.1:c.1792_1795dup
ENST00000680887.1:c.8914_8917dup	ENSP00000505508.1:p.Arg2973LeufsTer?
ENST00000380152.7:c.8914_8917dup	ENSP00000369497.3:p.Arg2973LeufsTer?
ENST00000528762.1:c.476_479dup	ENSP00000433168.1:n.476_479dup
ENST00000544455.5:c.8914_8917dup	ENSP00000439902.1:p.Arg2973LeufsTer?
NM_000059.3:c.8914_8917dup , LRG_293t1:c.8914_8917dup	NP_000050.2:p.Arg2973LeufsTer?
XM_011535203.1:c.8914_8917dup	XP_011533505.1:p.Arg2973LeufsTer?
XM_011535204.1:c.8818_8821dup	XP_011533506.1:p.Arg2941LeufsTer?
XM_011535205.1:c.8755-274_8755-271dup	XP_011533507.1:n.8755-274_8755-271dup
NM_000059.4:c.8914_8917dup MANE Select	NP_000050.3:p.Arg2973LeufsTer?