Canonical Allele Identifier: CA025850
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52692
dbSNP Id: rs28897754

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379412G>T , CM000675.2:g.32379412G>T GRCh38
NC_000013.10:g.32953549G>T , CM000675.1:g.32953549G>T GRCh37
NC_000013.9:g.31851549G>T NCBI36
NG_012772.3:g.68933G>T , LRG_293:g.68933G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8850G>T ENSP00000434898.2:p.Lys2950Asn
ENST00000528762.2:c.*217G>T ENSP00000433168.2:n.*217G>T
ENST00000530893.7:c.8481G>T ENSP00000499438.2:p.Lys2827Asn
ENST00000665585.2:c.*412G>T ENSP00000499570.2:n.*412G>T
ENST00000666593.2:c.8850G>T ENSP00000499256.2:p.Lys2950Asn
ENST00000700202.2:c.8850G>T ENSP00000514856.2:p.Lys2950Asn
ENST00000700202.1:c.1317G>T ENSP00000514856.1:p.Lys439Asn
ENST00000700203.1:n.977G>T
ENST00000380152.8:c.8850G>T MANE Select ENSP00000369497.3:p.Lys2950Asn
ENST00000544455.6:c.8850G>T ENSP00000439902.1:p.Lys2950Asn
ENST00000614259.2:c.8858G>T ENSP00000506251.1:n.8858G>T
ENST00000665585.1:c.1728G>T
ENST00000680887.1:c.8850G>T ENSP00000505508.1:p.Lys2950Asn
ENST00000380152.7:c.8850G>T ENSP00000369497.3:p.Lys2950Asn
ENST00000528762.1:c.412G>T ENSP00000433168.1:n.412G>T
ENST00000544455.5:c.8850G>T ENSP00000439902.1:p.Lys2950Asn
NM_000059.3:c.8850G>T , LRG_293t1:c.8850G>T NP_000050.2:p.Lys2950Asn
XM_011535203.1:c.8850G>T XP_011533505.1:p.Lys2950Asn
XM_011535204.1:c.8754G>T XP_011533506.1:p.Lys2918Asn
XM_011535205.1:c.8755-338G>T XP_011533507.1:n.8755-338G>T
NM_000059.4:c.8850G>T MANE Select NP_000050.3:p.Lys2950Asn