Canonical Allele Identifier: CA2695217915
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376679_32376680insTTTT , CM000675.2:g.32376679_32376680insTTTT GRCh38
NC_000013.10:g.32950816_32950817insTTTT , CM000675.1:g.32950816_32950817insTTTT GRCh37
NC_000013.9:g.31848816_31848817insTTTT NCBI36
NG_012772.3:g.66200_66201insTTTT , LRG_293:g.66200_66201insTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8642_8643insTTTT ENSP00000434898.2:p.Lys2882PhefsTer26
ENST00000528762.2:c.*9_*10insTTTT ENSP00000433168.2:n.*9_*10insTTTT
ENST00000530893.7:c.8273_8274insTTTT ENSP00000499438.2:p.Lys2759PhefsTer26
ENST00000665585.2:c.*204_*205insTTTT ENSP00000499570.2:n.*204_*205insTTTT
ENST00000666593.2:c.8642_8643insTTTT ENSP00000499256.2:p.Lys2882PhefsTer26
ENST00000700202.2:c.8642_8643insTTTT ENSP00000514856.2:p.Lys2882PhefsTer26
ENST00000700202.1:c.1109_1110insTTTT ENSP00000514856.1:p.Lys371PhefsTer26
ENST00000700203.1:n.769_770insTTTT
ENST00000380152.8:c.8642_8643insTTTT MANE Select ENSP00000369497.3:p.Lys2882PhefsTer26
ENST00000544455.6:c.8642_8643insTTTT ENSP00000439902.1:p.Lys2882PhefsTer26
ENST00000614259.2:c.8650_8651insTTTT ENSP00000506251.1:n.8650_8651insTTTT
ENST00000665585.1:c.1520_1521insTTTT
ENST00000680887.1:c.8642_8643insTTTT ENSP00000505508.1:p.Lys2882PhefsTer26
ENST00000380152.7:c.8642_8643insTTTT ENSP00000369497.3:p.Lys2882PhefsTer26
ENST00000528762.1:c.204_205insTTTT ENSP00000433168.1:n.204_205insTTTT
ENST00000544455.5:c.8642_8643insTTTT ENSP00000439902.1:p.Lys2882PhefsTer26
NM_000059.3:c.8642_8643insTTTT , LRG_293t1:c.8642_8643insTTTT NP_000050.2:p.Lys2882PhefsTer26
XM_011535203.1:c.8642_8643insTTTT XP_011533505.1:p.Lys2882PhefsTer26
XM_011535204.1:c.8546_8547insTTTT XP_011533506.1:p.Lys2850PhefsTer26
XM_011535205.1:c.8642_8643insTTTT XP_011533507.1:p.Lys2882PhefsTer26
NM_000059.4:c.8642_8643insTTTT MANE Select NP_000050.3:p.Lys2882PhefsTer26