Canonical Allele Identifier: CA2082815876

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339147_32339151delinsCTCAA , CM000675.2:g.32339147_32339151delinsCTCAA	GRCh38
NC_000013.10:g.32913284_32913288delinsCTCAA , CM000675.1:g.32913284_32913288delinsCTCAA	GRCh37
NC_000013.9:g.31811284_31811288delinsCTCAA	NCBI36
NG_012772.3:g.28668_28672delinsCTCAA , LRG_293:g.28668_28672delinsCTCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4792_4796delinsCTCAA	ENSP00000434898.2:p.Leu1598=
ENST00000528762.2:c.4792_4796delinsCTCAA	ENSP00000433168.2:p.Leu1598=
ENST00000530893.7:c.4423_4427delinsCTCAA	ENSP00000499438.2:p.Leu1475=
ENST00000665585.2:c.4792_4796delinsCTCAA	ENSP00000499570.2:p.Leu1598=
ENST00000666593.2:c.4792_4796delinsCTCAA	ENSP00000499256.2:p.Leu1598=
ENST00000700202.2:c.4792_4796delinsCTCAA	ENSP00000514856.2:p.Leu1598=
ENST00000380152.8:c.4792_4796delinsCTCAA MANE Select	ENSP00000369497.3:p.Leu1598=
ENST00000544455.6:c.4792_4796delinsCTCAA	ENSP00000439902.1:p.Leu1598=
ENST00000614259.2:c.4792_4796delinsCTCAA	ENSP00000506251.1:p.Leu1598=
ENST00000680887.1:c.4792_4796delinsCTCAA	ENSP00000505508.1:p.Leu1598=
ENST00000380152.7:c.4792_4796delinsCTCAA	ENSP00000369497.3:p.Leu1598=
ENST00000544455.5:c.4792_4796delinsCTCAA	ENSP00000439902.1:p.Leu1598=
ENST00000614259.1:n.4792_4796delinsCTCAA
NM_000059.3:c.4792_4796delinsCTCAA , LRG_293t1:c.4792_4796delinsCTCAA	NP_000050.2:p.Leu1598=
XM_011535203.1:c.4792_4796delinsCTCAA	XP_011533505.1:p.Leu1598=
XM_011535204.1:c.4792_4796delinsCTCAA	XP_011533506.1:p.Leu1598=
XM_011535205.1:c.4792_4796delinsCTCAA	XP_011533507.1:p.Leu1598=
NM_000059.4:c.4792_4796delinsCTCAA MANE Select	NP_000050.3:p.Leu1598=