Canonical Allele Identifier: CA2082835827
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398412C= , CM000675.2:g.32398412C= GRCh38
NC_000013.10:g.32972549C= , CM000675.1:g.32972549C= GRCh37
NC_000013.9:g.31870549C= NCBI36
NG_012772.3:g.87933C= , LRG_293:g.87933C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*422C= ENSP00000434898.2:n.*422C=
ENST00000528762.2:c.*1266C= ENSP00000433168.2:n.*1266C=
ENST00000530893.7:c.9530C= ENSP00000499438.2:p.Pro3177=
ENST00000665585.2:c.*1461C= ENSP00000499570.2:n.*1461C=
ENST00000700202.2:c.9848C= ENSP00000514856.2:p.Pro3283=
ENST00000700202.1:c.2315C= ENSP00000514856.1:p.Pro772=
ENST00000700203.1:n.2026C=
ENST00000380152.8:c.9899C= MANE Select ENSP00000369497.3:p.Pro3300=
ENST00000544455.6:c.9899C= ENSP00000439902.1:p.Pro3300=
ENST00000614259.2:c.9907C= ENSP00000506251.1:n.9907C=
ENST00000680887.1:c.9899C= ENSP00000505508.1:p.Pro3300=
ENST00000380152.7:c.9899C= ENSP00000369497.3:p.Pro3300=
ENST00000533776.1:n.487C=
ENST00000544455.5:c.9899C= ENSP00000439902.1:p.Pro3300=
NM_000059.3:c.9899C= , LRG_293t1:c.9899C= NP_000050.2:p.Pro3300=
XM_011535203.1:c.9899C= XP_011533505.1:p.Pro3300=
XM_011535204.1:c.9803C= XP_011533506.1:p.Pro3268=
NM_000059.4:c.9899C= MANE Select NP_000050.3:p.Pro3300=