Canonical Allele Identifier: CA2082836227
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398472C= , CM000675.2:g.32398472C= GRCh38
NC_000013.10:g.32972609C= , CM000675.1:g.32972609C= GRCh37
NC_000013.9:g.31870609C= NCBI36
NG_012772.3:g.87993C= , LRG_293:g.87993C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*482C= ENSP00000434898.2:n.*482C=
ENST00000528762.2:c.*1326C= ENSP00000433168.2:n.*1326C=
ENST00000530893.7:c.9590C= ENSP00000499438.2:p.Pro3197=
ENST00000665585.2:c.*1521C= ENSP00000499570.2:n.*1521C=
ENST00000700202.2:c.9908C= ENSP00000514856.2:p.Pro3303=
ENST00000700202.1:c.2375C= ENSP00000514856.1:p.Pro792=
ENST00000700203.1:n.2086C=
ENST00000380152.8:c.9959C= MANE Select ENSP00000369497.3:p.Pro3320=
ENST00000544455.6:c.9959C= ENSP00000439902.1:p.Pro3320=
ENST00000614259.2:c.9967C= ENSP00000506251.1:n.9967C=
ENST00000680887.1:c.9959C= ENSP00000505508.1:p.Pro3320=
ENST00000380152.7:c.9959C= ENSP00000369497.3:p.Pro3320=
ENST00000544455.5:c.9959C= ENSP00000439902.1:p.Pro3320=
NM_000059.3:c.9959C= , LRG_293t1:c.9959C= NP_000050.2:p.Pro3320=
XM_011535203.1:c.9959C= XP_011533505.1:p.Pro3320=
XM_011535204.1:c.9863C= XP_011533506.1:p.Pro3288=
NM_000059.4:c.9959C= MANE Select NP_000050.3:p.Pro3320=