Canonical Allele Identifier: CA2082768168
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332931_32332932delinsAA , CM000675.2:g.32332931_32332932delinsAA GRCh38
NC_000013.10:g.32907068_32907069delinsAA , CM000675.1:g.32907068_32907069delinsAA GRCh37
NC_000013.9:g.31805068_31805069delinsAA NCBI36
NG_012772.3:g.22452_22453delinsAA , LRG_293:g.22452_22453delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.1453_1454delinsAA ENSP00000434898.2:p.Lys485=
ENST00000528762.2:c.1453_1454delinsAA ENSP00000433168.2:p.Lys485=
ENST00000530893.7:c.1084_1085delinsAA ENSP00000499438.2:p.Lys362=
ENST00000665585.2:c.1453_1454delinsAA ENSP00000499570.2:p.Lys485=
ENST00000666593.2:c.1453_1454delinsAA ENSP00000499256.2:p.Lys485=
ENST00000700202.2:c.1453_1454delinsAA ENSP00000514856.2:p.Lys485=
ENST00000700201.1:c.*1232_*1233delinsAA ENSP00000514855.1:n.*1232_*1233delinsAA
ENST00000380152.8:c.1453_1454delinsAA MANE Select ENSP00000369497.3:p.Lys485=
ENST00000544455.6:c.1453_1454delinsAA ENSP00000439902.1:p.Lys485=
ENST00000614259.2:c.1453_1454delinsAA ENSP00000506251.1:p.Lys485=
ENST00000680887.1:c.1453_1454delinsAA ENSP00000505508.1:p.Lys485=
ENST00000380152.7:c.1453_1454delinsAA ENSP00000369497.3:p.Lys485=
ENST00000530893.6:n.1651_1652delinsAA
ENST00000544455.5:c.1453_1454delinsAA ENSP00000439902.1:p.Lys485=
ENST00000614259.1:n.1453_1454delinsAA
NM_000059.3:c.1453_1454delinsAA , LRG_293t1:c.1453_1454delinsAA NP_000050.2:p.Lys485=
XM_011535203.1:c.1453_1454delinsAA XP_011533505.1:p.Lys485=
XM_011535204.1:c.1453_1454delinsAA XP_011533506.1:p.Lys485=
XM_011535205.1:c.1453_1454delinsAA XP_011533507.1:p.Lys485=
NM_000059.4:c.1453_1454delinsAA MANE Select NP_000050.3:p.Lys485=