Canonical Allele Identifier: CA2082834386
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32363211_32363234delinsCGGCTATAAAAAAGATAATGGAAA , CM000675.2:g.32363211_32363234delinsCGGCTATAAAAAAGATAATGGAAA GRCh38
NC_000013.10:g.32937348_32937371delinsCGGCTATAAAAAAGATAATGGAAA , CM000675.1:g.32937348_32937371delinsCGGCTATAAAAAAGATAATGGAAA GRCh37
NC_000013.9:g.31835348_31835371delinsCGGCTATAAAAAAGATAATGGAAA NCBI36
NG_012772.3:g.52732_52755delinsCGGCTATAAAAAAGATAATGGAAA , LRG_293:g.52732_52755delinsCGGCTATAAAAAAGATAATGGAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA ENSP00000434898.2:p.Ser2670=
ENST00000528762.2:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA ENSP00000433168.2:p.Ser2670=
ENST00000530893.7:c.7640_7663delinsCGGCTATAAAAAAGATAATGGAAA ENSP00000499438.2:p.Ser2547=
ENST00000665585.2:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA ENSP00000499570.2:p.Ser2670=
ENST00000666593.2:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA ENSP00000499256.2:p.Ser2670=
ENST00000700202.2:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA ENSP00000514856.2:p.Ser2670=
ENST00000700202.1:c.476_499delinsCGGCTATAAAAAAGATAATGGAAA ENSP00000514856.1:p.Ser159=
ENST00000380152.8:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA MANE Select ENSP00000369497.3:p.Ser2670=
ENST00000544455.6:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA ENSP00000439902.1:p.Ser2670=
ENST00000614259.2:c.8017_8040delinsCGGCTATAAAAAAGATAATGGAAA ENSP00000506251.1:n.8017_8040delinsCGGCTA...
ENST00000665585.1:c.574_597delinsCGGCTATAAAAAAGATAATGGAAA
ENST00000680887.1:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA ENSP00000505508.1:p.Ser2670=
ENST00000380152.7:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA ENSP00000369497.3:p.Ser2670=
ENST00000544455.5:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA ENSP00000439902.1:p.Ser2670=
NM_000059.3:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA , LRG_293t1:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA NP_000050.2:p.Ser2670=
XM_011535203.1:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA XP_011533505.1:p.Ser2670=
XM_011535204.1:c.7913_7936delinsCGGCTATAAAAAAGATAATGGAAA XP_011533506.1:p.Ser2638=
XM_011535205.1:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA XP_011533507.1:p.Ser2670=
NM_000059.4:c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA MANE Select NP_000050.3:p.Ser2670=