Canonical Allele Identifier: CA2082836610
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379495_32379496delinsCA , CM000675.2:g.32379495_32379496delinsCA GRCh38
NC_000013.10:g.32953632_32953633delinsCA , CM000675.1:g.32953632_32953633delinsCA GRCh37
NC_000013.9:g.31851632_31851633delinsCA NCBI36
NG_012772.3:g.69016_69017delinsCA , LRG_293:g.69016_69017delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8933_8934delinsCA ENSP00000434898.2:p.Ser2978=
ENST00000528762.2:c.*300_*301delinsCA ENSP00000433168.2:n.*300_*301delinsCA
ENST00000530893.7:c.8564_8565delinsCA ENSP00000499438.2:p.Ser2855=
ENST00000665585.2:c.*495_*496delinsCA ENSP00000499570.2:n.*495_*496delinsCA
ENST00000666593.2:c.8933_8934delinsCA ENSP00000499256.2:p.Ser2978=
ENST00000700202.2:c.8933_8934delinsCA ENSP00000514856.2:p.Ser2978=
ENST00000700202.1:c.1400_1401delinsCA ENSP00000514856.1:p.Ser467=
ENST00000700203.1:n.1060_1061delinsCA
ENST00000380152.8:c.8933_8934delinsCA MANE Select ENSP00000369497.3:p.Ser2978=
ENST00000544455.6:c.8933_8934delinsCA ENSP00000439902.1:p.Ser2978=
ENST00000614259.2:c.8941_8942delinsCA ENSP00000506251.1:n.8941_8942delinsCA
ENST00000665585.1:c.1811_1812delinsCA
ENST00000680887.1:c.8933_8934delinsCA ENSP00000505508.1:p.Ser2978=
ENST00000380152.7:c.8933_8934delinsCA ENSP00000369497.3:p.Ser2978=
ENST00000544455.5:c.8933_8934delinsCA ENSP00000439902.1:p.Ser2978=
NM_000059.3:c.8933_8934delinsCA , LRG_293t1:c.8933_8934delinsCA NP_000050.2:p.Ser2978=
XM_011535203.1:c.8933_8934delinsCA XP_011533505.1:p.Ser2978=
XM_011535204.1:c.8837_8838delinsCA XP_011533506.1:p.Ser2946=
XM_011535205.1:c.8755-255_8755-254delinsCA XP_011533507.1:n.8755-255_8755-254delinsC...
NM_000059.4:c.8933_8934delinsCA MANE Select NP_000050.3:p.Ser2978=