Canonical Allele Identifier: CA2082822685
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394756C= , CM000675.2:g.32394756C= GRCh38
NC_000013.10:g.32968893C= , CM000675.1:g.32968893C= GRCh37
NC_000013.9:g.31866893C= NCBI36
NG_012772.3:g.84277C= , LRG_293:g.84277C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9324C= ENSP00000434898.2:p.Asp3108=
ENST00000528762.2:c.*691C= ENSP00000433168.2:n.*691C=
ENST00000530893.7:c.8955C= ENSP00000499438.2:p.Asp2985=
ENST00000665585.2:c.*886C= ENSP00000499570.2:n.*886C=
ENST00000666593.2:c.*169C= ENSP00000499256.2:n.*169C=
ENST00000700202.2:c.9273C= ENSP00000514856.2:p.Asp3091=
ENST00000700202.1:c.1740C= ENSP00000514856.1:p.Asp580=
ENST00000700203.1:n.1451C=
ENST00000380152.8:c.9324C= MANE Select ENSP00000369497.3:p.Asp3108=
ENST00000544455.6:c.9324C= ENSP00000439902.1:p.Asp3108=
ENST00000614259.2:c.9332C= ENSP00000506251.1:n.9332C=
ENST00000665585.1:c.2202C=
ENST00000666593.1:c.346C= ENSP00000499256.1:n.346C=
ENST00000680887.1:c.9324C= ENSP00000505508.1:p.Asp3108=
ENST00000380152.7:c.9324C= ENSP00000369497.3:p.Asp3108=
ENST00000470094.1:c.281C=
ENST00000544455.5:c.9324C= ENSP00000439902.1:p.Asp3108=
NM_000059.3:c.9324C= , LRG_293t1:c.9324C= NP_000050.2:p.Asp3108=
XM_011535203.1:c.9324C= XP_011533505.1:p.Asp3108=
XM_011535204.1:c.9228C= XP_011533506.1:p.Asp3076=
NM_000059.4:c.9324C= MANE Select NP_000050.3:p.Asp3108=