Canonical Allele Identifier: CA2082836360

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379475_32379476delinsGT , CM000675.2:g.32379475_32379476delinsGT	GRCh38
NC_000013.10:g.32953612_32953613delinsGT , CM000675.1:g.32953612_32953613delinsGT	GRCh37
NC_000013.9:g.31851612_31851613delinsGT	NCBI36
NG_012772.3:g.68996_68997delinsGT , LRG_293:g.68996_68997delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8913_8914delinsGT	ENSP00000434898.2:p.Lys2971=
ENST00000528762.2:c.*280_*281delinsGT	ENSP00000433168.2:n.*280_*281delinsGT
ENST00000530893.7:c.8544_8545delinsGT	ENSP00000499438.2:p.Lys2848=
ENST00000665585.2:c.*475_*476delinsGT	ENSP00000499570.2:n.*475_*476delinsGT
ENST00000666593.2:c.8913_8914delinsGT	ENSP00000499256.2:p.Lys2971=
ENST00000700202.2:c.8913_8914delinsGT	ENSP00000514856.2:p.Lys2971=
ENST00000700202.1:c.1380_1381delinsGT	ENSP00000514856.1:p.Lys460=
ENST00000700203.1:n.1040_1041delinsGT
ENST00000380152.8:c.8913_8914delinsGT MANE Select	ENSP00000369497.3:p.Lys2971=
ENST00000544455.6:c.8913_8914delinsGT	ENSP00000439902.1:p.Lys2971=
ENST00000614259.2:c.8921_8922delinsGT	ENSP00000506251.1:n.8921_8922delinsGT
ENST00000665585.1:c.1791_1792delinsGT
ENST00000680887.1:c.8913_8914delinsGT	ENSP00000505508.1:p.Lys2971=
ENST00000380152.7:c.8913_8914delinsGT	ENSP00000369497.3:p.Lys2971=
ENST00000528762.1:c.475_476delinsGT	ENSP00000433168.1:n.475_476delinsGT
ENST00000544455.5:c.8913_8914delinsGT	ENSP00000439902.1:p.Lys2971=
NM_000059.3:c.8913_8914delinsGT , LRG_293t1:c.8913_8914delinsGT	NP_000050.2:p.Lys2971=
XM_011535203.1:c.8913_8914delinsGT	XP_011533505.1:p.Lys2971=
XM_011535204.1:c.8817_8818delinsGT	XP_011533506.1:p.Lys2939=
XM_011535205.1:c.8755-275_8755-274delinsGT	XP_011533507.1:n.8755-275_8755-274delinsGT
NM_000059.4:c.8913_8914delinsGT MANE Select	NP_000050.3:p.Lys2971=