Canonical Allele Identifier: CA2082836214
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398469C= , CM000675.2:g.32398469C= GRCh38
NC_000013.10:g.32972606C= , CM000675.1:g.32972606C= GRCh37
NC_000013.9:g.31870606C= NCBI36
NG_012772.3:g.87990C= , LRG_293:g.87990C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*479C= ENSP00000434898.2:n.*479C=
ENST00000528762.2:c.*1323C= ENSP00000433168.2:n.*1323C=
ENST00000530893.7:c.9587C= ENSP00000499438.2:p.Ser3196=
ENST00000665585.2:c.*1518C= ENSP00000499570.2:n.*1518C=
ENST00000700202.2:c.9905C= ENSP00000514856.2:p.Ser3302=
ENST00000700202.1:c.2372C= ENSP00000514856.1:p.Ser791=
ENST00000700203.1:n.2083C=
ENST00000380152.8:c.9956C= MANE Select ENSP00000369497.3:p.Ser3319=
ENST00000544455.6:c.9956C= ENSP00000439902.1:p.Ser3319=
ENST00000614259.2:c.9964C= ENSP00000506251.1:n.9964C=
ENST00000680887.1:c.9956C= ENSP00000505508.1:p.Ser3319=
ENST00000380152.7:c.9956C= ENSP00000369497.3:p.Ser3319=
ENST00000544455.5:c.9956C= ENSP00000439902.1:p.Ser3319=
NM_000059.3:c.9956C= , LRG_293t1:c.9956C= NP_000050.2:p.Ser3319=
XM_011535203.1:c.9956C= XP_011533505.1:p.Ser3319=
XM_011535204.1:c.9860C= XP_011533506.1:p.Ser3287=
NM_000059.4:c.9956C= MANE Select NP_000050.3:p.Ser3319=