Canonical Allele Identifier: CA2082821362
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394606G= , CM000675.2:g.32394606G= GRCh38
NC_000013.10:g.32968743G= , CM000675.1:g.32968743G= GRCh37
NC_000013.9:g.31866743G= NCBI36
NG_012772.3:g.84127G= , LRG_293:g.84127G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9257-83G= ENSP00000434898.2:n.9257-83G=
ENST00000528762.2:c.*624-83G= ENSP00000433168.2:n.*624-83G=
ENST00000530893.7:c.8888-83G= ENSP00000499438.2:n.8888-83G=
ENST00000665585.2:c.*819-83G= ENSP00000499570.2:n.*819-83G=
ENST00000666593.2:c.*102-83G= ENSP00000499256.2:n.*102-83G=
ENST00000700202.2:c.9206-83G= ENSP00000514856.2:n.9206-83G=
ENST00000700202.1:c.1673-83G= ENSP00000514856.1:n.1673-83G=
ENST00000700203.1:n.1384-83G=
ENST00000380152.8:c.9257-83G= MANE Select ENSP00000369497.3:n.9257-83G=
ENST00000544455.6:c.9257-83G= ENSP00000439902.1:n.9257-83G=
ENST00000614259.2:c.9265-83G= ENSP00000506251.1:n.9265-83G=
ENST00000665585.1:c.2135-83G=
ENST00000666593.1:c.279-83G= ENSP00000499256.1:n.279-83G=
ENST00000680887.1:c.9257-83G= ENSP00000505508.1:n.9257-83G=
ENST00000380152.7:c.9257-83G= ENSP00000369497.3:n.9257-83G=
ENST00000470094.1:c.214-83G=
ENST00000544455.5:c.9257-83G= ENSP00000439902.1:n.9257-83G=
NM_000059.3:c.9257-83G= , LRG_293t1:c.9257-83G= NP_000050.2:n.9257-83G=
XM_011535203.1:c.9257-83G= XP_011533505.1:n.9257-83G=
XM_011535204.1:c.9161-83G= XP_011533506.1:n.9161-83G=
NM_000059.4:c.9257-83G= MANE Select NP_000050.3:n.9257-83G=