Canonical Allele Identifier: CA2082823185
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394797C= , CM000675.2:g.32394797C= GRCh38
NC_000013.10:g.32968934C= , CM000675.1:g.32968934C= GRCh37
NC_000013.9:g.31866934C= NCBI36
NG_012772.3:g.84318C= , LRG_293:g.84318C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9365C= ENSP00000434898.2:p.Ala3122=
ENST00000528762.2:c.*732C= ENSP00000433168.2:n.*732C=
ENST00000530893.7:c.8996C= ENSP00000499438.2:p.Ala2999=
ENST00000665585.2:c.*927C= ENSP00000499570.2:n.*927C=
ENST00000666593.2:c.*210C= ENSP00000499256.2:n.*210C=
ENST00000700202.2:c.9314C= ENSP00000514856.2:p.Ala3105=
ENST00000700202.1:c.1781C= ENSP00000514856.1:p.Ala594=
ENST00000700203.1:n.1492C=
ENST00000380152.8:c.9365C= MANE Select ENSP00000369497.3:p.Ala3122=
ENST00000544455.6:c.9365C= ENSP00000439902.1:p.Ala3122=
ENST00000614259.2:c.9373C= ENSP00000506251.1:n.9373C=
ENST00000665585.1:c.2243C=
ENST00000666593.1:c.387C= ENSP00000499256.1:n.387C=
ENST00000680887.1:c.9365C= ENSP00000505508.1:p.Ala3122=
ENST00000380152.7:c.9365C= ENSP00000369497.3:p.Ala3122=
ENST00000470094.1:c.322C=
ENST00000544455.5:c.9365C= ENSP00000439902.1:p.Ala3122=
NM_000059.3:c.9365C= , LRG_293t1:c.9365C= NP_000050.2:p.Ala3122=
XM_011535203.1:c.9365C= XP_011533505.1:p.Ala3122=
XM_011535204.1:c.9269C= XP_011533506.1:p.Ala3090=
NM_000059.4:c.9365C= MANE Select NP_000050.3:p.Ala3122=