Canonical Allele Identifier: CA025316
Gene: BRCA2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362589_32362590del , CM000675.2:g.32362589_32362590del GRCh38
NC_000013.10:g.32936726_32936727del , CM000675.1:g.32936726_32936727del GRCh37
NC_000013.9:g.31834726_31834727del NCBI36
NG_012772.3:g.52110_52111del , LRG_293:g.52110_52111del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.7872_7873del MANE Select NP_000050.3:p.Tyr2624Ter
ENST00000380152.8:c.7872_7873del MANE Select ENSP00000369497.3:p.Tyr2624Ter
NM_000059.3:c.7872_7873del , LRG_293t1:c.7872_7873del NP_000050.2:p.Tyr2624Ter
ENST00000380152.7:c.7872_7873del ENSP00000369497.3:p.Tyr2624Ter
ENST00000470094.2:c.7872_7873del ENSP00000434898.2:p.Tyr2624Ter
ENST00000528762.2:c.7872_7873del ENSP00000433168.2:p.Tyr2624Ter
ENST00000530893.7:c.7503_7504del ENSP00000499438.2:p.Tyr2501Ter
ENST00000544455.5:c.7872_7873del ENSP00000439902.1:p.Tyr2624Ter
ENST00000544455.6:c.7872_7873del ENSP00000439902.1:p.Tyr2624Ter
ENST00000614259.1:n.7880_7881del
ENST00000614259.2:c.7880_7881del ENSP00000506251.1:p.Ile2627ArgfsTer?
ENST00000665585.1:c.437_438del
ENST00000665585.2:c.7872_7873del ENSP00000499570.2:p.Tyr2624Ter
ENST00000666593.2:c.7872_7873del ENSP00000499256.2:p.Tyr2624Ter
ENST00000680887.1:c.7872_7873del ENSP00000505508.1:p.Tyr2624Ter
ENST00000700202.1:c.339_340del ENSP00000514856.1:p.Tyr113Ter
ENST00000700202.2:c.7872_7873del ENSP00000514856.2:p.Tyr2624Ter
XM_011535203.1:c.7872_7873del XP_011533505.1:p.Tyr2624Ter
XM_011535204.1:c.7776_7777del XP_011533506.1:p.Tyr2592Ter
XM_011535205.1:c.7872_7873del XP_011533507.1:p.Tyr2624Ter
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