Canonical Allele Identifier: CA2622601843
Gene: BRCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379652_32379653del , CM000675.2:g.32379652_32379653del GRCh38
NC_000013.10:g.32953789_32953790del , CM000675.1:g.32953789_32953790del GRCh37
NC_000013.9:g.31851789_31851790del NCBI36
NG_012772.3:g.69173_69174del , LRG_293:g.69173_69174del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8954-98_8954-97del ENSP00000434898.2:n.8954-98_8954-97del
ENST00000528762.2:c.*321-98_*321-97del ENSP00000433168.2:n.*321-98_*321-97del
ENST00000530893.7:c.8585-98_8585-97del ENSP00000499438.2:n.8585-98_8585-97del
ENST00000665585.2:c.*516-98_*516-97del ENSP00000499570.2:n.*516-98_*516-97del
ENST00000666593.2:c.8954-98_8954-97del ENSP00000499256.2:n.8954-98_8954-97del
ENST00000700202.2:c.8953+137_8953+138del ENSP00000514856.2:n.8953+137_8953+138del
ENST00000700202.1:c.1420+137_1420+138del ENSP00000514856.1:n.1420+137_1420+138del
ENST00000700203.1:n.1081-98_1081-97del
ENST00000380152.8:c.8954-98_8954-97del MANE Select ENSP00000369497.3:n.8954-98_8954-97del
ENST00000544455.6:c.8954-98_8954-97del ENSP00000439902.1:n.8954-98_8954-97del
ENST00000614259.2:c.8962-98_8962-97del ENSP00000506251.1:n.8962-98_8962-97del
ENST00000665585.1:c.1832-98_1832-97del
ENST00000680887.1:c.8954-98_8954-97del ENSP00000505508.1:n.8954-98_8954-97del
ENST00000380152.7:c.8954-98_8954-97del ENSP00000369497.3:n.8954-98_8954-97del
ENST00000544455.5:c.8954-98_8954-97del ENSP00000439902.1:n.8954-98_8954-97del
NM_000059.3:c.8954-98_8954-97del , LRG_293t1:c.8954-98_8954-97del NP_000050.2:n.8954-98_8954-97del
XM_011535203.1:c.8954-98_8954-97del XP_011533505.1:n.8954-98_8954-97del
XM_011535204.1:c.8858-98_8858-97del XP_011533506.1:n.8858-98_8858-97del
XM_011535205.1:c.8755-98_8755-97del XP_011533507.1:n.8755-98_8755-97del
NM_000059.4:c.8954-98_8954-97del MANE Select NP_000050.3:n.8954-98_8954-97del