Canonical Allele Identifier: CA2082828189
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376679_32376681delinsCAA , CM000675.2:g.32376679_32376681delinsCAA GRCh38
NC_000013.10:g.32950816_32950818delinsCAA , CM000675.1:g.32950816_32950818delinsCAA GRCh37
NC_000013.9:g.31848816_31848818delinsCAA NCBI36
NG_012772.3:g.66200_66202delinsCAA , LRG_293:g.66200_66202delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8642_8644delinsCAA ENSP00000434898.2:p.Thr2881=
ENST00000528762.2:c.*9_*11delinsCAA ENSP00000433168.2:n.*9_*11delinsCAA
ENST00000530893.7:c.8273_8275delinsCAA ENSP00000499438.2:p.Thr2758=
ENST00000665585.2:c.*204_*206delinsCAA ENSP00000499570.2:n.*204_*206delinsCAA
ENST00000666593.2:c.8642_8644delinsCAA ENSP00000499256.2:p.Thr2881=
ENST00000700202.2:c.8642_8644delinsCAA ENSP00000514856.2:p.Thr2881=
ENST00000700202.1:c.1109_1111delinsCAA ENSP00000514856.1:p.Thr370=
ENST00000700203.1:n.769_771delinsCAA
ENST00000380152.8:c.8642_8644delinsCAA MANE Select ENSP00000369497.3:p.Thr2881=
ENST00000544455.6:c.8642_8644delinsCAA ENSP00000439902.1:p.Thr2881=
ENST00000614259.2:c.8650_8652delinsCAA ENSP00000506251.1:n.8650_8652delinsCAA
ENST00000665585.1:c.1520_1522delinsCAA
ENST00000680887.1:c.8642_8644delinsCAA ENSP00000505508.1:p.Thr2881=
ENST00000380152.7:c.8642_8644delinsCAA ENSP00000369497.3:p.Thr2881=
ENST00000528762.1:c.204_206delinsCAA ENSP00000433168.1:n.204_206delinsCAA
ENST00000544455.5:c.8642_8644delinsCAA ENSP00000439902.1:p.Thr2881=
NM_000059.3:c.8642_8644delinsCAA , LRG_293t1:c.8642_8644delinsCAA NP_000050.2:p.Thr2881=
XM_011535203.1:c.8642_8644delinsCAA XP_011533505.1:p.Thr2881=
XM_011535204.1:c.8546_8548delinsCAA XP_011533506.1:p.Thr2849=
XM_011535205.1:c.8642_8644delinsCAA XP_011533507.1:p.Thr2881=
NM_000059.4:c.8642_8644delinsCAA MANE Select NP_000050.3:p.Thr2881=