Canonical Allele Identifier: CA2727917416
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137577982

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362688dup , CM000675.2:g.32362688dup GRCh38
NC_000013.10:g.32936825dup , CM000675.1:g.32936825dup GRCh37
NC_000013.9:g.31834825dup NCBI36
NG_012772.3:g.52209dup , LRG_293:g.52209dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7971dup ENSP00000434898.2:p.Tyr2658IlefsTer4
ENST00000528762.2:c.7971dup ENSP00000433168.2:p.Tyr2658IlefsTer4
ENST00000530893.7:c.7602dup ENSP00000499438.2:p.Tyr2535IlefsTer4
ENST00000665585.2:c.7971dup ENSP00000499570.2:p.Tyr2658IlefsTer4
ENST00000666593.2:c.7971dup ENSP00000499256.2:p.Tyr2658IlefsTer4
ENST00000700202.2:c.7971dup ENSP00000514856.2:p.Tyr2658IlefsTer4
ENST00000700202.1:c.438dup ENSP00000514856.1:p.Tyr147IlefsTer4
ENST00000380152.8:c.7971dup MANE Select ENSP00000369497.3:p.Tyr2658IlefsTer4
ENST00000544455.6:c.7971dup ENSP00000439902.1:p.Tyr2658IlefsTer4
ENST00000614259.2:c.7979dup ENSP00000506251.1:n.7979dup
ENST00000665585.1:c.536dup
ENST00000680887.1:c.7971dup ENSP00000505508.1:p.Tyr2658IlefsTer4
ENST00000380152.7:c.7971dup ENSP00000369497.3:p.Tyr2658IlefsTer4
ENST00000544455.5:c.7971dup ENSP00000439902.1:p.Tyr2658IlefsTer4
NM_000059.3:c.7971dup , LRG_293t1:c.7971dup NP_000050.2:p.Tyr2658IlefsTer4
XM_011535203.1:c.7971dup XP_011533505.1:p.Tyr2658IlefsTer4
XM_011535204.1:c.7875dup XP_011533506.1:p.Tyr2626IlefsTer4
XM_011535205.1:c.7971dup XP_011533507.1:p.Tyr2658IlefsTer4
NM_000059.4:c.7971dup MANE Select NP_000050.3:p.Tyr2658IlefsTer4