Canonical Allele Identifier: CA919242563
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1566233257

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340154_32340155insA , CM000675.2:g.32340154_32340155insA GRCh38
NC_000013.10:g.32914291_32914292insA , CM000675.1:g.32914291_32914292insA GRCh37
NC_000013.9:g.31812291_31812292insA NCBI36
NG_012772.3:g.29675_29676insA , LRG_293:g.29675_29676insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.5799_5800insA ENSP00000434898.2:p.Gln1934ThrfsTer11
ENST00000528762.2:c.5799_5800insA ENSP00000433168.2:p.Gln1934ThrfsTer11
ENST00000530893.7:c.5430_5431insA ENSP00000499438.2:p.Gln1811ThrfsTer11
ENST00000665585.2:c.5799_5800insA ENSP00000499570.2:p.Gln1934ThrfsTer11
ENST00000666593.2:c.5799_5800insA ENSP00000499256.2:p.Gln1934ThrfsTer11
ENST00000700202.2:c.5799_5800insA ENSP00000514856.2:p.Gln1934ThrfsTer11
ENST00000380152.8:c.5799_5800insA MANE Select ENSP00000369497.3:p.Gln1934ThrfsTer11
ENST00000544455.6:c.5799_5800insA ENSP00000439902.1:p.Gln1934ThrfsTer11
ENST00000614259.2:c.5799_5800insA ENSP00000506251.1:p.Gln1934ThrfsTer11
ENST00000680887.1:c.5799_5800insA ENSP00000505508.1:p.Gln1934ThrfsTer11
ENST00000380152.7:c.5799_5800insA ENSP00000369497.3:p.Gln1934ThrfsTer11
ENST00000544455.5:c.5799_5800insA ENSP00000439902.1:p.Gln1934ThrfsTer11
ENST00000614259.1:n.5799_5800insA
NM_000059.3:c.5799_5800insA , LRG_293t1:c.5799_5800insA NP_000050.2:p.Gln1934ThrfsTer11
XM_011535203.1:c.5799_5800insA XP_011533505.1:p.Gln1934ThrfsTer11
XM_011535204.1:c.5799_5800insA XP_011533506.1:p.Gln1934ThrfsTer11
XM_011535205.1:c.5799_5800insA XP_011533507.1:p.Gln1934ThrfsTer11
NM_000059.4:c.5799_5800insA MANE Select NP_000050.3:p.Gln1934ThrfsTer11