Canonical Allele Identifier: CA2082839407
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379912_32379913delinsCG , CM000675.2:g.32379912_32379913delinsCG GRCh38
NC_000013.10:g.32954049_32954050delinsCG , CM000675.1:g.32954049_32954050delinsCG GRCh37
NC_000013.9:g.31852049_31852050delinsCG NCBI36
NG_012772.3:g.69433_69434delinsCG , LRG_293:g.69433_69434delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9116_9117delinsCG ENSP00000434898.2:p.Pro3039=
ENST00000528762.2:c.*483_*484delinsCG ENSP00000433168.2:n.*483_*484delinsCG
ENST00000530893.7:c.8747_8748delinsCG ENSP00000499438.2:p.Pro2916=
ENST00000665585.2:c.*678_*679delinsCG ENSP00000499570.2:n.*678_*679delinsCG
ENST00000666593.2:c.9116_9117delinsCG ENSP00000499256.2:p.Pro3039=
ENST00000700202.2:c.9065_9066delinsCG ENSP00000514856.2:p.Pro3022=
ENST00000700202.1:c.1532_1533delinsCG ENSP00000514856.1:p.Pro511=
ENST00000700203.1:n.1243_1244delinsCG
ENST00000380152.8:c.9116_9117delinsCG MANE Select ENSP00000369497.3:p.Pro3039=
ENST00000544455.6:c.9116_9117delinsCG ENSP00000439902.1:p.Pro3039=
ENST00000614259.2:c.9124_9125delinsCG ENSP00000506251.1:n.9124_9125delinsCG
ENST00000665585.1:c.1994_1995delinsCG
ENST00000680887.1:c.9116_9117delinsCG ENSP00000505508.1:p.Pro3039=
ENST00000380152.7:c.9116_9117delinsCG ENSP00000369497.3:p.Pro3039=
ENST00000470094.1:c.73_74delinsCG
ENST00000544455.5:c.9116_9117delinsCG ENSP00000439902.1:p.Pro3039=
NM_000059.3:c.9116_9117delinsCG , LRG_293t1:c.9116_9117delinsCG NP_000050.2:p.Pro3039=
XM_011535203.1:c.9116_9117delinsCG XP_011533505.1:p.Pro3039=
XM_011535204.1:c.9020_9021delinsCG XP_011533506.1:p.Pro3007=
NM_000059.4:c.9116_9117delinsCG MANE Select NP_000050.3:p.Pro3039=