Canonical Allele Identifier: CA2082837979
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398694_32398695delinsAG , CM000675.2:g.32398694_32398695delinsAG GRCh38
NC_000013.10:g.32972831_32972832delinsAG , CM000675.1:g.32972831_32972832delinsAG GRCh37
NC_000013.9:g.31870831_31870832delinsAG NCBI36
NG_012772.3:g.88215_88216delinsAG , LRG_293:g.88215_88216delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*704_*705delinsAG ENSP00000434898.2:n.*704_*705delinsAG
ENST00000528762.2:c.*1548_*1549delinsAG ENSP00000433168.2:n.*1548_*1549delinsAG
ENST00000530893.7:c.9812_9813delinsAG ENSP00000499438.2:p.Gln3271=
ENST00000665585.2:c.*1743_*1744delinsAG ENSP00000499570.2:n.*1743_*1744delinsAG
ENST00000700202.2:c.10130_10131delinsAG ENSP00000514856.2:p.Gln3377=
ENST00000700202.1:c.2597_2598delinsAG ENSP00000514856.1:p.Gln866=
ENST00000700203.1:n.2308_2309delinsAG
ENST00000380152.8:c.10181_10182delinsAG MANE Select ENSP00000369497.3:p.Gln3394=
ENST00000544455.6:c.10181_10182delinsAG ENSP00000439902.1:p.Gln3394=
ENST00000614259.2:c.10189_10190delinsAG ENSP00000506251.1:n.10189_10190delinsAG
ENST00000680887.1:c.10181_10182delinsAG ENSP00000505508.1:p.Gln3394=
ENST00000380152.7:c.10181_10182delinsAG ENSP00000369497.3:p.Gln3394=
ENST00000544455.5:c.10181_10182delinsAG ENSP00000439902.1:p.Gln3394=
NM_000059.3:c.10181_10182delinsAG , LRG_293t1:c.10181_10182delinsAG NP_000050.2:p.Gln3394=
XM_011535203.1:c.10181_10182delinsAG XP_011533505.1:p.Gln3394=
XM_011535204.1:c.10085_10086delinsAG XP_011533506.1:p.Gln3362=
NM_000059.4:c.10181_10182delinsAG MANE Select NP_000050.3:p.Gln3394=