Canonical Allele Identifier: CA2082838174
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379814C= , CM000675.2:g.32379814C= GRCh38
NC_000013.10:g.32953951C= , CM000675.1:g.32953951C= GRCh37
NC_000013.9:g.31851951C= NCBI36
NG_012772.3:g.69335C= , LRG_293:g.69335C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9018C= ENSP00000434898.2:p.Tyr3006=
ENST00000528762.2:c.*385C= ENSP00000433168.2:n.*385C=
ENST00000530893.7:c.8649C= ENSP00000499438.2:p.Tyr2883=
ENST00000665585.2:c.*580C= ENSP00000499570.2:n.*580C=
ENST00000666593.2:c.9018C= ENSP00000499256.2:p.Tyr3006=
ENST00000700202.2:c.8967C= ENSP00000514856.2:p.Tyr2989=
ENST00000700202.1:c.1434C= ENSP00000514856.1:p.Tyr478=
ENST00000700203.1:n.1145C=
ENST00000380152.8:c.9018C= MANE Select ENSP00000369497.3:p.Tyr3006=
ENST00000544455.6:c.9018C= ENSP00000439902.1:p.Tyr3006=
ENST00000614259.2:c.9026C= ENSP00000506251.1:n.9026C=
ENST00000665585.1:c.1896C=
ENST00000680887.1:c.9018C= ENSP00000505508.1:p.Tyr3006=
ENST00000380152.7:c.9018C= ENSP00000369497.3:p.Tyr3006=
ENST00000544455.5:c.9018C= ENSP00000439902.1:p.Tyr3006=
NM_000059.3:c.9018C= , LRG_293t1:c.9018C= NP_000050.2:p.Tyr3006=
XM_011535203.1:c.9018C= XP_011533505.1:p.Tyr3006=
XM_011535204.1:c.8922C= XP_011533506.1:p.Tyr2974=
XM_011535205.1:c.*56C= XP_011533507.1:n.*56C=
NM_000059.4:c.9018C= MANE Select NP_000050.3:p.Tyr3006=