Canonical Allele Identifier: CA2082832164
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362678T= , CM000675.2:g.32362678T= GRCh38
NC_000013.10:g.32936815T= , CM000675.1:g.32936815T= GRCh37
NC_000013.9:g.31834815T= NCBI36
NG_012772.3:g.52199T= , LRG_293:g.52199T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7961T= ENSP00000434898.2:p.Leu2654=
ENST00000528762.2:c.7961T= ENSP00000433168.2:p.Leu2654=
ENST00000530893.7:c.7592T= ENSP00000499438.2:p.Leu2531=
ENST00000665585.2:c.7961T= ENSP00000499570.2:p.Leu2654=
ENST00000666593.2:c.7961T= ENSP00000499256.2:p.Leu2654=
ENST00000700202.2:c.7961T= ENSP00000514856.2:p.Leu2654=
ENST00000700202.1:c.428T= ENSP00000514856.1:p.Leu143=
ENST00000380152.8:c.7961T= MANE Select ENSP00000369497.3:p.Leu2654=
ENST00000544455.6:c.7961T= ENSP00000439902.1:p.Leu2654=
ENST00000614259.2:c.7969T= ENSP00000506251.1:n.7969T=
ENST00000665585.1:c.526T=
ENST00000680887.1:c.7961T= ENSP00000505508.1:p.Leu2654=
ENST00000380152.7:c.7961T= ENSP00000369497.3:p.Leu2654=
ENST00000544455.5:c.7961T= ENSP00000439902.1:p.Leu2654=
NM_000059.3:c.7961T= , LRG_293t1:c.7961T= NP_000050.2:p.Leu2654=
XM_011535203.1:c.7961T= XP_011533505.1:p.Leu2654=
XM_011535204.1:c.7865T= XP_011533506.1:p.Leu2622=
XM_011535205.1:c.7961T= XP_011533507.1:p.Leu2654=
NM_000059.4:c.7961T= MANE Select NP_000050.3:p.Leu2654=