Canonical Allele Identifier: CA2082776392
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32316526_32316527delinsAG , CM000675.2:g.32316526_32316527delinsAG GRCh38
NC_000013.10:g.32890663_32890664delinsAG , CM000675.1:g.32890663_32890664delinsAG GRCh37
NC_000013.9:g.31788663_31788664delinsAG NCBI36
NG_012772.3:g.6047_6048delinsAG , LRG_293:g.6047_6048delinsAG
NG_017006.1:g.428_429delinsCT
NG_017006.2:g.3837_3838delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.66_67delinsAG ENSP00000434898.2:p.Ala22=
ENST00000528762.2:c.66_67delinsAG ENSP00000433168.2:p.Ala22=
ENST00000530893.7:c.-303+3_-303+4delinsAG ENSP00000499438.2:n.-303+3_-303+4delinsAG
ENST00000665585.2:c.66_67delinsAG ENSP00000499570.2:p.Ala22=
ENST00000666593.2:c.66_67delinsAG ENSP00000499256.2:p.Ala22=
ENST00000700202.2:c.66_67delinsAG ENSP00000514856.2:p.Ala22=
ENST00000700199.1:n.190_191delinsAG
ENST00000700200.1:n.190_191delinsAG
ENST00000700201.1:c.66_67delinsAG ENSP00000514855.1:p.Ala22=
ENST00000380152.8:c.66_67delinsAG MANE Select ENSP00000369497.3:p.Ala22=
ENST00000544455.6:c.66_67delinsAG ENSP00000439902.1:p.Ala22=
ENST00000614259.2:c.66_67delinsAG ENSP00000506251.1:p.Ala22=
ENST00000680887.1:c.66_67delinsAG ENSP00000505508.1:p.Ala22=
ENST00000380152.7:c.66_67delinsAG ENSP00000369497.3:p.Ala22=
ENST00000530893.6:n.265+3_265+4delinsAG
ENST00000544455.5:c.66_67delinsAG ENSP00000439902.1:p.Ala22=
ENST00000614259.1:n.66_67delinsAG
NM_000059.3:c.66_67delinsAG , LRG_293t1:c.66_67delinsAG NP_000050.2:p.Ala22=
XM_011535203.1:c.66_67delinsAG XP_011533505.1:p.Ala22=
XM_011535204.1:c.66_67delinsAG XP_011533506.1:p.Ala22=
XM_011535205.1:c.66_67delinsAG XP_011533507.1:p.Ala22=
NM_000059.4:c.66_67delinsAG MANE Select NP_000050.3:p.Ala22=