Canonical Allele Identifier: CA2082836301
Community Standard Title: NM_000059.4(BRCA2):c.9976A= (p.Lys3326=)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398489A= , CM000675.2:g.32398489A= GRCh38
NC_000013.10:g.32972626A= , CM000675.1:g.32972626A= GRCh37
NC_000013.9:g.31870626A= NCBI36
NG_012772.3:g.88010A= , LRG_293:g.88010A=

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9976A= MANE Select NP_000050.3:p.Lys3326=
ENST00000380152.8:c.9976A= MANE Select ENSP00000369497.3:p.Lys3326=
NM_000059.3:c.9976A= , LRG_293t1:c.9976A= NP_000050.2:p.Lys3326=
ENST00000380152.7:c.9976A= ENSP00000369497.3:p.Lys3326=
ENST00000470094.2:c.*499A= ENSP00000434898.2:n.*499A=
ENST00000528762.2:c.*1343A= ENSP00000433168.2:n.*1343A=
ENST00000530893.7:c.9607A= ENSP00000499438.2:p.Lys3203=
ENST00000544455.5:c.9976A= ENSP00000439902.1:p.Lys3326=
ENST00000544455.6:c.9976A= ENSP00000439902.1:p.Lys3326=
ENST00000614259.2:c.9984A= ENSP00000506251.1:n.9984A=
ENST00000665585.2:c.*1538A= ENSP00000499570.2:n.*1538A=
ENST00000680887.1:c.9976A= ENSP00000505508.1:p.Lys3326=
ENST00000700202.1:c.2392A= ENSP00000514856.1:p.Lys798=
ENST00000700202.2:c.9925A= ENSP00000514856.2:p.Lys3309=
ENST00000700203.1:n.2103A=
XM_011535203.1:c.9976A= XP_011533505.1:p.Lys3326=
XM_011535204.1:c.9880A= XP_011533506.1:p.Lys3294=