Canonical Allele Identifier: CA025994
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38215
dbSNP Id: rs28897756

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379913G>A , CM000675.2:g.32379913G>A GRCh38
NC_000013.10:g.32954050G>A , CM000675.1:g.32954050G>A GRCh37
NC_000013.9:g.31852050G>A NCBI36
NG_012772.3:g.69434G>A , LRG_293:g.69434G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9117G>A ENSP00000434898.2:p.Pro3039=
ENST00000528762.2:c.*484G>A ENSP00000433168.2:n.*484G>A
ENST00000530893.7:c.8748G>A ENSP00000499438.2:p.Pro2916=
ENST00000665585.2:c.*679G>A ENSP00000499570.2:n.*679G>A
ENST00000666593.2:c.9117G>A ENSP00000499256.2:p.Pro3039=
ENST00000700202.2:c.9066G>A ENSP00000514856.2:p.Pro3022=
ENST00000700202.1:c.1533G>A ENSP00000514856.1:p.Pro511=
ENST00000700203.1:n.1244G>A
ENST00000380152.8:c.9117G>A MANE Select ENSP00000369497.3:p.Pro3039=
ENST00000544455.6:c.9117G>A ENSP00000439902.1:p.Pro3039=
ENST00000614259.2:c.9125G>A ENSP00000506251.1:n.9125G>A
ENST00000665585.1:c.1995G>A
ENST00000680887.1:c.9117G>A ENSP00000505508.1:p.Pro3039=
ENST00000380152.7:c.9117G>A ENSP00000369497.3:p.Pro3039=
ENST00000470094.1:c.74G>A
ENST00000544455.5:c.9117G>A ENSP00000439902.1:p.Pro3039=
NM_000059.3:c.9117G>A , LRG_293t1:c.9117G>A NP_000050.2:p.Pro3039=
XM_011535203.1:c.9117G>A XP_011533505.1:p.Pro3039=
XM_011535204.1:c.9021G>A XP_011533506.1:p.Pro3007=
NM_000059.4:c.9117G>A MANE Select NP_000050.3:p.Pro3039=