Canonical Allele Identifier: CA2082836661
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398548A= , CM000675.2:g.32398548A= GRCh38
NC_000013.10:g.32972685A= , CM000675.1:g.32972685A= GRCh37
NC_000013.9:g.31870685A= NCBI36
NG_012772.3:g.88069A= , LRG_293:g.88069A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*558A= ENSP00000434898.2:n.*558A=
ENST00000528762.2:c.*1402A= ENSP00000433168.2:n.*1402A=
ENST00000530893.7:c.9666A= ENSP00000499438.2:p.Ala3222=
ENST00000665585.2:c.*1597A= ENSP00000499570.2:n.*1597A=
ENST00000700202.2:c.9984A= ENSP00000514856.2:p.Ala3328=
ENST00000700202.1:c.2451A= ENSP00000514856.1:p.Ala817=
ENST00000700203.1:n.2162A=
ENST00000380152.8:c.10035A= MANE Select ENSP00000369497.3:p.Ala3345=
ENST00000544455.6:c.10035A= ENSP00000439902.1:p.Ala3345=
ENST00000614259.2:c.10043A= ENSP00000506251.1:n.10043A=
ENST00000680887.1:c.10035A= ENSP00000505508.1:p.Ala3345=
ENST00000380152.7:c.10035A= ENSP00000369497.3:p.Ala3345=
ENST00000544455.5:c.10035A= ENSP00000439902.1:p.Ala3345=
NM_000059.3:c.10035A= , LRG_293t1:c.10035A= NP_000050.2:p.Ala3345=
XM_011535203.1:c.10035A= XP_011533505.1:p.Ala3345=
XM_011535204.1:c.9939A= XP_011533506.1:p.Ala3313=
NM_000059.4:c.10035A= MANE Select NP_000050.3:p.Ala3345=