Canonical Allele Identifier: CA2082838532
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379850_32379851delinsTA , CM000675.2:g.32379850_32379851delinsTA GRCh38
NC_000013.10:g.32953987_32953988delinsTA , CM000675.1:g.32953987_32953988delinsTA GRCh37
NC_000013.9:g.31851987_31851988delinsTA NCBI36
NG_012772.3:g.69371_69372delinsTA , LRG_293:g.69371_69372delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9054_9055delinsTA ENSP00000434898.2:p.Ser3018=
ENST00000528762.2:c.*421_*422delinsTA ENSP00000433168.2:n.*421_*422delinsTA
ENST00000530893.7:c.8685_8686delinsTA ENSP00000499438.2:p.Ser2895=
ENST00000665585.2:c.*616_*617delinsTA ENSP00000499570.2:n.*616_*617delinsTA
ENST00000666593.2:c.9054_9055delinsTA ENSP00000499256.2:p.Ser3018=
ENST00000700202.2:c.9003_9004delinsTA ENSP00000514856.2:p.Ser3001=
ENST00000700202.1:c.1470_1471delinsTA ENSP00000514856.1:p.Ser490=
ENST00000700203.1:n.1181_1182delinsTA
ENST00000380152.8:c.9054_9055delinsTA MANE Select ENSP00000369497.3:p.Ser3018=
ENST00000544455.6:c.9054_9055delinsTA ENSP00000439902.1:p.Ser3018=
ENST00000614259.2:c.9062_9063delinsTA ENSP00000506251.1:n.9062_9063delinsTA
ENST00000665585.1:c.1932_1933delinsTA
ENST00000680887.1:c.9054_9055delinsTA ENSP00000505508.1:p.Ser3018=
ENST00000380152.7:c.9054_9055delinsTA ENSP00000369497.3:p.Ser3018=
ENST00000470094.1:c.11_12delinsTA
ENST00000544455.5:c.9054_9055delinsTA ENSP00000439902.1:p.Ser3018=
NM_000059.3:c.9054_9055delinsTA , LRG_293t1:c.9054_9055delinsTA NP_000050.2:p.Ser3018=
XM_011535203.1:c.9054_9055delinsTA XP_011533505.1:p.Ser3018=
XM_011535204.1:c.8958_8959delinsTA XP_011533506.1:p.Ser2986=
NM_000059.4:c.9054_9055delinsTA MANE Select NP_000050.3:p.Ser3018=