Canonical Allele Identifier: CA387767584
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs76635144

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398499A>T , CM000675.2:g.32398499A>T GRCh38
NC_000013.10:g.32972636A>T , CM000675.1:g.32972636A>T GRCh37
NC_000013.9:g.31870636A>T NCBI36
NG_012772.3:g.88020A>T , LRG_293:g.88020A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*509A>T ENSP00000434898.2:n.*509A>T
ENST00000528762.2:c.*1353A>T ENSP00000433168.2:n.*1353A>T
ENST00000530893.7:c.9617A>T ENSP00000499438.2:p.Asn3206Ile
ENST00000665585.2:c.*1548A>T ENSP00000499570.2:n.*1548A>T
ENST00000700202.2:c.9935A>T ENSP00000514856.2:p.Asn3312Ile
ENST00000700202.1:c.2402A>T ENSP00000514856.1:p.Asn801Ile
ENST00000700203.1:n.2113A>T
ENST00000380152.8:c.9986A>T MANE Select ENSP00000369497.3:p.Asn3329Ile
ENST00000544455.6:c.9986A>T ENSP00000439902.1:p.Asn3329Ile
ENST00000614259.2:c.9994A>T ENSP00000506251.1:n.9994A>T
ENST00000680887.1:c.9986A>T ENSP00000505508.1:p.Asn3329Ile
ENST00000380152.7:c.9986A>T ENSP00000369497.3:p.Asn3329Ile
ENST00000544455.5:c.9986A>T ENSP00000439902.1:p.Asn3329Ile
NM_000059.3:c.9986A>T , LRG_293t1:c.9986A>T NP_000050.2:p.Asn3329Ile
XM_011535203.1:c.9986A>T XP_011533505.1:p.Asn3329Ile
XM_011535204.1:c.9890A>T XP_011533506.1:p.Asn3297Ile
NM_000059.4:c.9986A>T MANE Select NP_000050.3:p.Asn3329Ile