Canonical Allele Identifier: CA2727933990
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137626376

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32380239_32380250del , CM000675.2:g.32380239_32380250del GRCh38
NC_000013.10:g.32954376_32954387del , CM000675.1:g.32954376_32954387del GRCh37
NC_000013.9:g.31852376_31852387del NCBI36
NG_012772.3:g.69760_69771del , LRG_293:g.69760_69771del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9256+94_9256+105del ENSP00000434898.2:n.9256+94_9256+105del
ENST00000528762.2:c.*623+94_*623+105del ENSP00000433168.2:n.*623+94_*623+105del
ENST00000530893.7:c.8887+94_8887+105del ENSP00000499438.2:n.8887+94_8887+105del
ENST00000665585.2:c.*818+94_*818+105del ENSP00000499570.2:n.*818+94_*818+105del
ENST00000666593.2:c.9256+94_9256+105del ENSP00000499256.2:n.9256+94_9256+105del
ENST00000700202.2:c.9205+94_9205+105del ENSP00000514856.2:n.9205+94_9205+105del
ENST00000700202.1:c.1672+94_1672+105del ENSP00000514856.1:n.1672+94_1672+105del
ENST00000700203.1:n.1383+94_1383+105del
ENST00000380152.8:c.9256+94_9256+105del MANE Select ENSP00000369497.3:n.9256+94_9256+105del
ENST00000544455.6:c.9256+94_9256+105del ENSP00000439902.1:n.9256+94_9256+105del
ENST00000614259.2:c.9264+94_9264+105del ENSP00000506251.1:n.9264+94_9264+105del
ENST00000665585.1:c.2134+94_2134+105del
ENST00000666593.1:c.139+94_139+105del ENSP00000499256.1:n.139+94_139+105del
ENST00000680887.1:c.9256+94_9256+105del ENSP00000505508.1:n.9256+94_9256+105del
ENST00000380152.7:c.9256+94_9256+105del ENSP00000369497.3:n.9256+94_9256+105del
ENST00000470094.1:c.213+94_213+105del
ENST00000544455.5:c.9256+94_9256+105del ENSP00000439902.1:n.9256+94_9256+105del
NM_000059.3:c.9256+94_9256+105del , LRG_293t1:c.9256+94_9256+105del NP_000050.2:n.9256+94_9256+105del
XM_011535203.1:c.9256+94_9256+105del XP_011533505.1:n.9256+94_9256+105del
XM_011535204.1:c.9160+94_9160+105del XP_011533506.1:n.9160+94_9160+105del
NM_000059.4:c.9256+94_9256+105del MANE Select NP_000050.3:n.9256+94_9256+105del