Canonical Allele Identifier: CA2082835978
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398437C= , CM000675.2:g.32398437C= GRCh38
NC_000013.10:g.32972574C= , CM000675.1:g.32972574C= GRCh37
NC_000013.9:g.31870574C= NCBI36
NG_012772.3:g.87958C= , LRG_293:g.87958C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*447C= ENSP00000434898.2:n.*447C=
ENST00000528762.2:c.*1291C= ENSP00000433168.2:n.*1291C=
ENST00000530893.7:c.9555C= ENSP00000499438.2:p.Tyr3185=
ENST00000665585.2:c.*1486C= ENSP00000499570.2:n.*1486C=
ENST00000700202.2:c.9873C= ENSP00000514856.2:p.Tyr3291=
ENST00000700202.1:c.2340C= ENSP00000514856.1:p.Tyr780=
ENST00000700203.1:n.2051C=
ENST00000380152.8:c.9924C= MANE Select ENSP00000369497.3:p.Tyr3308=
ENST00000544455.6:c.9924C= ENSP00000439902.1:p.Tyr3308=
ENST00000614259.2:c.9932C= ENSP00000506251.1:n.9932C=
ENST00000680887.1:c.9924C= ENSP00000505508.1:p.Tyr3308=
ENST00000380152.7:c.9924C= ENSP00000369497.3:p.Tyr3308=
ENST00000533776.1:n.512C=
ENST00000544455.5:c.9924C= ENSP00000439902.1:p.Tyr3308=
NM_000059.3:c.9924C= , LRG_293t1:c.9924C= NP_000050.2:p.Tyr3308=
XM_011535203.1:c.9924C= XP_011533505.1:p.Tyr3308=
XM_011535204.1:c.9828C= XP_011533506.1:p.Tyr3276=
NM_000059.4:c.9924C= MANE Select NP_000050.3:p.Tyr3308=