Canonical Allele Identifier: CA2082828601
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376709_32376711delinsCAA , CM000675.2:g.32376709_32376711delinsCAA GRCh38
NC_000013.10:g.32950846_32950848delinsCAA , CM000675.1:g.32950846_32950848delinsCAA GRCh37
NC_000013.9:g.31848846_31848848delinsCAA NCBI36
NG_012772.3:g.66230_66232delinsCAA , LRG_293:g.66230_66232delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8672_8674delinsCAA ENSP00000434898.2:p.Thr2891=
ENST00000528762.2:c.*39_*41delinsCAA ENSP00000433168.2:n.*39_*41delinsCAA
ENST00000530893.7:c.8303_8305delinsCAA ENSP00000499438.2:p.Thr2768=
ENST00000665585.2:c.*234_*236delinsCAA ENSP00000499570.2:n.*234_*236delinsCAA
ENST00000666593.2:c.8672_8674delinsCAA ENSP00000499256.2:p.Thr2891=
ENST00000700202.2:c.8672_8674delinsCAA ENSP00000514856.2:p.Thr2891=
ENST00000700202.1:c.1139_1141delinsCAA ENSP00000514856.1:p.Thr380=
ENST00000700203.1:n.799_801delinsCAA
ENST00000380152.8:c.8672_8674delinsCAA MANE Select ENSP00000369497.3:p.Thr2891=
ENST00000544455.6:c.8672_8674delinsCAA ENSP00000439902.1:p.Thr2891=
ENST00000614259.2:c.8680_8682delinsCAA ENSP00000506251.1:n.8680_8682delinsCAA
ENST00000665585.1:c.1550_1552delinsCAA
ENST00000680887.1:c.8672_8674delinsCAA ENSP00000505508.1:p.Thr2891=
ENST00000380152.7:c.8672_8674delinsCAA ENSP00000369497.3:p.Thr2891=
ENST00000528762.1:c.234_236delinsCAA ENSP00000433168.1:n.234_236delinsCAA
ENST00000544455.5:c.8672_8674delinsCAA ENSP00000439902.1:p.Thr2891=
NM_000059.3:c.8672_8674delinsCAA , LRG_293t1:c.8672_8674delinsCAA NP_000050.2:p.Thr2891=
XM_011535203.1:c.8672_8674delinsCAA XP_011533505.1:p.Thr2891=
XM_011535204.1:c.8576_8578delinsCAA XP_011533506.1:p.Thr2859=
XM_011535205.1:c.8672_8674delinsCAA XP_011533507.1:p.Thr2891=
NM_000059.4:c.8672_8674delinsCAA MANE Select NP_000050.3:p.Thr2891=