Canonical Allele Identifier: CA2082817946
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32357786_32357787delinsCA , CM000675.2:g.32357786_32357787delinsCA GRCh38
NC_000013.10:g.32931923_32931924delinsCA , CM000675.1:g.32931923_32931924delinsCA GRCh37
NC_000013.9:g.31829923_31829924delinsCA NCBI36
NG_012772.3:g.47307_47308delinsCA , LRG_293:g.47307_47308delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7662_7663delinsCA ENSP00000434898.2:p.Ser2554=
ENST00000528762.2:c.7662_7663delinsCA ENSP00000433168.2:p.Ser2554=
ENST00000530893.7:c.7293_7294delinsCA ENSP00000499438.2:p.Ser2431=
ENST00000665585.2:c.7662_7663delinsCA ENSP00000499570.2:p.Ser2554=
ENST00000666593.2:c.7662_7663delinsCA ENSP00000499256.2:p.Ser2554=
ENST00000700202.2:c.7662_7663delinsCA ENSP00000514856.2:p.Ser2554=
ENST00000700202.1:c.129_130delinsCA ENSP00000514856.1:p.Ser43=
ENST00000380152.8:c.7662_7663delinsCA MANE Select ENSP00000369497.3:p.Ser2554=
ENST00000544455.6:c.7662_7663delinsCA ENSP00000439902.1:p.Ser2554=
ENST00000614259.2:c.7662_7663delinsCA ENSP00000506251.1:p.Ser2554=
ENST00000665585.1:c.227_228delinsCA
ENST00000680887.1:c.7662_7663delinsCA ENSP00000505508.1:p.Ser2554=
ENST00000380152.7:c.7662_7663delinsCA ENSP00000369497.3:p.Ser2554=
ENST00000544455.5:c.7662_7663delinsCA ENSP00000439902.1:p.Ser2554=
ENST00000614259.1:n.7662_7663delinsCA
NM_000059.3:c.7662_7663delinsCA , LRG_293t1:c.7662_7663delinsCA NP_000050.2:p.Ser2554=
XM_011535203.1:c.7662_7663delinsCA XP_011533505.1:p.Ser2554=
XM_011535204.1:c.7566_7567delinsCA XP_011533506.1:p.Ser2522=
XM_011535205.1:c.7662_7663delinsCA XP_011533507.1:p.Ser2554=
NM_000059.4:c.7662_7663delinsCA MANE Select NP_000050.3:p.Ser2554=