Canonical Allele Identifier: CA2573149522
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137663078

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398222_32398227del , CM000675.2:g.32398222_32398227del GRCh38
NC_000013.10:g.32972359_32972364del , CM000675.1:g.32972359_32972364del GRCh37
NC_000013.9:g.31870359_31870364del NCBI36
NG_012772.3:g.87743_87748del , LRG_293:g.87743_87748del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*232_*237del ENSP00000434898.2:n.*232_*237del
ENST00000528762.2:c.*1076_*1081del ENSP00000433168.2:n.*1076_*1081del
ENST00000530893.7:c.9340_9345del ENSP00000499438.2:p.Arg3114_Lys3115del
ENST00000665585.2:c.*1271_*1276del ENSP00000499570.2:n.*1271_*1276del
ENST00000700202.2:c.9658_9663del ENSP00000514856.2:p.Arg3220_Lys3221del
ENST00000700202.1:c.2125_2130del ENSP00000514856.1:p.Arg709_Lys710del
ENST00000700203.1:n.1836_1841del
ENST00000380152.8:c.9709_9714del MANE Select ENSP00000369497.3:p.Arg3237_Lys3238del
ENST00000544455.6:c.9709_9714del ENSP00000439902.1:p.Arg3237_Lys3238del
ENST00000614259.2:c.9717_9722del ENSP00000506251.1:n.9717_9722del
ENST00000665585.1:c.2587_2592del
ENST00000680887.1:c.9709_9714del ENSP00000505508.1:p.Arg3237_Lys3238del
ENST00000380152.7:c.9709_9714del ENSP00000369497.3:p.Arg3237_Lys3238del
ENST00000470094.1:c.792_797del
ENST00000533776.1:n.297_302del
ENST00000544455.5:c.9709_9714del ENSP00000439902.1:p.Arg3237_Lys3238del
NM_000059.3:c.9709_9714del , LRG_293t1:c.9709_9714del NP_000050.2:p.Arg3237_Lys3238del
XM_011535203.1:c.9709_9714del XP_011533505.1:p.Arg3237_Lys3238del
XM_011535204.1:c.9613_9618del XP_011533506.1:p.Arg3205_Lys3206del
NM_000059.4:c.9709_9714del MANE Select NP_000050.3:p.Arg3237_Lys3238del