Canonical Allele Identifier: CA387757414
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 926416
dbSNP Id: rs1593937365

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379780A>C , CM000675.2:g.32379780A>C GRCh38
NC_000013.10:g.32953917A>C , CM000675.1:g.32953917A>C GRCh37
NC_000013.9:g.31851917A>C NCBI36
NG_012772.3:g.69301A>C , LRG_293:g.69301A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8984A>C ENSP00000434898.2:p.Asp2995Ala
ENST00000528762.2:c.*351A>C ENSP00000433168.2:n.*351A>C
ENST00000530893.7:c.8615A>C ENSP00000499438.2:p.Asp2872Ala
ENST00000665585.2:c.*546A>C ENSP00000499570.2:n.*546A>C
ENST00000666593.2:c.8984A>C ENSP00000499256.2:p.Asp2995Ala
ENST00000700202.2:c.8954-21A>C ENSP00000514856.2:n.8954-21A>C
ENST00000700202.1:c.1421-21A>C ENSP00000514856.1:n.1421-21A>C
ENST00000700203.1:n.1111A>C
ENST00000380152.8:c.8984A>C MANE Select ENSP00000369497.3:p.Asp2995Ala
ENST00000544455.6:c.8984A>C ENSP00000439902.1:p.Asp2995Ala
ENST00000614259.2:c.8992A>C ENSP00000506251.1:n.8992A>C
ENST00000665585.1:c.1862A>C
ENST00000680887.1:c.8984A>C ENSP00000505508.1:p.Asp2995Ala
ENST00000380152.7:c.8984A>C ENSP00000369497.3:p.Asp2995Ala
ENST00000544455.5:c.8984A>C ENSP00000439902.1:p.Asp2995Ala
NM_000059.3:c.8984A>C , LRG_293t1:c.8984A>C NP_000050.2:p.Asp2995Ala
XM_011535203.1:c.8984A>C XP_011533505.1:p.Asp2995Ala
XM_011535204.1:c.8888A>C XP_011533506.1:p.Asp2963Ala
XM_011535205.1:c.*22A>C XP_011533507.1:n.*22A>C
NM_000059.4:c.8984A>C MANE Select NP_000050.3:p.Asp2995Ala