Canonical Allele Identifier: CA2499222282
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1077094
ClinVar RCV Id: RCV001391217
dbSNP Id: rs80359650

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32355268dup , CM000675.2:g.32355268dup GRCh38
NC_000013.10:g.32929405dup , CM000675.1:g.32929405dup GRCh37
NC_000013.9:g.31827405dup NCBI36
NG_012772.3:g.44789dup , LRG_293:g.44789dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7415dup ENSP00000434898.2:p.Cys2473ValfsTer2
ENST00000528762.2:c.7415dup ENSP00000433168.2:p.Cys2473ValfsTer2
ENST00000530893.7:c.7046dup ENSP00000499438.2:p.Cys2350ValfsTer2
ENST00000665585.2:c.7415dup ENSP00000499570.2:p.Cys2473ValfsTer2
ENST00000666593.2:c.7415dup ENSP00000499256.2:p.Cys2473ValfsTer2
ENST00000700202.2:c.7415dup ENSP00000514856.2:p.Cys2473ValfsTer2
ENST00000380152.8:c.7415dup MANE Select ENSP00000369497.3:p.Cys2473ValfsTer2
ENST00000544455.6:c.7415dup ENSP00000439902.1:p.Cys2473ValfsTer2
ENST00000614259.2:c.7415dup ENSP00000506251.1:p.Cys2473ValfsTer2
ENST00000680887.1:c.7415dup ENSP00000505508.1:p.Cys2473ValfsTer2
ENST00000380152.7:c.7415dup ENSP00000369497.3:p.Cys2473ValfsTer2
ENST00000544455.5:c.7415dup ENSP00000439902.1:p.Cys2473ValfsTer2
ENST00000614259.1:n.7415dup
NM_000059.3:c.7415dup , LRG_293t1:c.7415dup NP_000050.2:p.Cys2473ValfsTer2
XM_011535203.1:c.7415dup XP_011533505.1:p.Cys2473ValfsTer2
XM_011535204.1:c.7319dup XP_011533506.1:p.Cys2441ValfsTer2
XM_011535205.1:c.7415dup XP_011533507.1:p.Cys2473ValfsTer2
NM_000059.4:c.7415dup MANE Select NP_000050.3:p.Cys2473ValfsTer2