Canonical Allele Identifier: CA2082837654
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379771C= , CM000675.2:g.32379771C= GRCh38
NC_000013.10:g.32953908C= , CM000675.1:g.32953908C= GRCh37
NC_000013.9:g.31851908C= NCBI36
NG_012772.3:g.69292C= , LRG_293:g.69292C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8975C= ENSP00000434898.2:p.Pro2992=
ENST00000528762.2:c.*342C= ENSP00000433168.2:n.*342C=
ENST00000530893.7:c.8606C= ENSP00000499438.2:p.Pro2869=
ENST00000665585.2:c.*537C= ENSP00000499570.2:n.*537C=
ENST00000666593.2:c.8975C= ENSP00000499256.2:p.Pro2992=
ENST00000700202.2:c.8954-30C= ENSP00000514856.2:n.8954-30C=
ENST00000700202.1:c.1421-30C= ENSP00000514856.1:n.1421-30C=
ENST00000700203.1:n.1102C=
ENST00000380152.8:c.8975C= MANE Select ENSP00000369497.3:p.Pro2992=
ENST00000544455.6:c.8975C= ENSP00000439902.1:p.Pro2992=
ENST00000614259.2:c.8983C= ENSP00000506251.1:n.8983C=
ENST00000665585.1:c.1853C=
ENST00000680887.1:c.8975C= ENSP00000505508.1:p.Pro2992=
ENST00000380152.7:c.8975C= ENSP00000369497.3:p.Pro2992=
ENST00000544455.5:c.8975C= ENSP00000439902.1:p.Pro2992=
NM_000059.3:c.8975C= , LRG_293t1:c.8975C= NP_000050.2:p.Pro2992=
XM_011535203.1:c.8975C= XP_011533505.1:p.Pro2992=
XM_011535204.1:c.8879C= XP_011533506.1:p.Pro2960=
XM_011535205.1:c.*13C= XP_011533507.1:n.*13C=
NM_000059.4:c.8975C= MANE Select NP_000050.3:p.Pro2992=