Canonical Allele Identifier: CA2575387950
Gene: BRCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379682_32379685del , CM000675.2:g.32379682_32379685del GRCh38
NC_000013.10:g.32953819_32953822del , CM000675.1:g.32953819_32953822del GRCh37
NC_000013.9:g.31851819_31851822del NCBI36
NG_012772.3:g.69203_69206del , LRG_293:g.69203_69206del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8954-68_8954-65del ENSP00000434898.2:n.8954-68_8954-65del
ENST00000528762.2:c.*321-68_*321-65del ENSP00000433168.2:n.*321-68_*321-65del
ENST00000530893.7:c.8585-68_8585-65del ENSP00000499438.2:n.8585-68_8585-65del
ENST00000665585.2:c.*516-68_*516-65del ENSP00000499570.2:n.*516-68_*516-65del
ENST00000666593.2:c.8954-68_8954-65del ENSP00000499256.2:n.8954-68_8954-65del
ENST00000700202.2:c.8954-119_8954-116del ENSP00000514856.2:n.8954-119_8954-116del
ENST00000700202.1:c.1421-119_1421-116del ENSP00000514856.1:n.1421-119_1421-116del
ENST00000700203.1:n.1081-68_1081-65del
ENST00000380152.8:c.8954-68_8954-65del MANE Select ENSP00000369497.3:n.8954-68_8954-65del
ENST00000544455.6:c.8954-68_8954-65del ENSP00000439902.1:n.8954-68_8954-65del
ENST00000614259.2:c.8962-68_8962-65del ENSP00000506251.1:n.8962-68_8962-65del
ENST00000665585.1:c.1832-68_1832-65del
ENST00000680887.1:c.8954-68_8954-65del ENSP00000505508.1:n.8954-68_8954-65del
ENST00000380152.7:c.8954-68_8954-65del ENSP00000369497.3:n.8954-68_8954-65del
ENST00000544455.5:c.8954-68_8954-65del ENSP00000439902.1:n.8954-68_8954-65del
NM_000059.3:c.8954-68_8954-65del , LRG_293t1:c.8954-68_8954-65del NP_000050.2:n.8954-68_8954-65del
XM_011535203.1:c.8954-68_8954-65del XP_011533505.1:n.8954-68_8954-65del
XM_011535204.1:c.8858-68_8858-65del XP_011533506.1:n.8858-68_8858-65del
XM_011535205.1:c.8755-68_8755-65del XP_011533507.1:n.8755-68_8755-65del
NM_000059.4:c.8954-68_8954-65del MANE Select NP_000050.3:n.8954-68_8954-65del