Canonical Allele Identifier: CA2082836147
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398458A= , CM000675.2:g.32398458A= GRCh38
NC_000013.10:g.32972595A= , CM000675.1:g.32972595A= GRCh37
NC_000013.9:g.31870595A= NCBI36
NG_012772.3:g.87979A= , LRG_293:g.87979A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*468A= ENSP00000434898.2:n.*468A=
ENST00000528762.2:c.*1312A= ENSP00000433168.2:n.*1312A=
ENST00000530893.7:c.9576A= ENSP00000499438.2:p.Lys3192=
ENST00000665585.2:c.*1507A= ENSP00000499570.2:n.*1507A=
ENST00000700202.2:c.9894A= ENSP00000514856.2:p.Lys3298=
ENST00000700202.1:c.2361A= ENSP00000514856.1:p.Lys787=
ENST00000700203.1:n.2072A=
ENST00000380152.8:c.9945A= MANE Select ENSP00000369497.3:p.Lys3315=
ENST00000544455.6:c.9945A= ENSP00000439902.1:p.Lys3315=
ENST00000614259.2:c.9953A= ENSP00000506251.1:n.9953A=
ENST00000680887.1:c.9945A= ENSP00000505508.1:p.Lys3315=
ENST00000380152.7:c.9945A= ENSP00000369497.3:p.Lys3315=
ENST00000544455.5:c.9945A= ENSP00000439902.1:p.Lys3315=
NM_000059.3:c.9945A= , LRG_293t1:c.9945A= NP_000050.2:p.Lys3315=
XM_011535203.1:c.9945A= XP_011533505.1:p.Lys3315=
XM_011535204.1:c.9849A= XP_011533506.1:p.Lys3283=
NM_000059.4:c.9945A= MANE Select NP_000050.3:p.Lys3315=