Canonical Allele Identifier: CA2082782782
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319126_32319130delinsTCCAC , CM000675.2:g.32319126_32319130delinsTCCAC GRCh38
NC_000013.10:g.32893263_32893267delinsTCCAC , CM000675.1:g.32893263_32893267delinsTCCAC GRCh37
NC_000013.9:g.31791263_31791267delinsTCCAC NCBI36
NG_012772.3:g.8647_8651delinsTCCAC , LRG_293:g.8647_8651delinsTCCAC
NG_017006.2:g.1234_1238delinsGTGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.117_121delinsTCCAC ENSP00000434898.2:p.Ala39=
ENST00000528762.2:c.117_121delinsTCCAC ENSP00000433168.2:p.Ala39=
ENST00000530893.7:c.-253_-249delinsTCCAC ENSP00000499438.2:n.-253_-249delinsTCCAC
ENST00000665585.2:c.117_121delinsTCCAC ENSP00000499570.2:p.Ala39=
ENST00000666593.2:c.117_121delinsTCCAC ENSP00000499256.2:p.Ala39=
ENST00000700202.2:c.117_121delinsTCCAC ENSP00000514856.2:p.Ala39=
ENST00000700200.1:n.191+2599_191+2603delinsTCCAC
ENST00000700201.1:c.117_121delinsTCCAC ENSP00000514855.1:p.Ala39=
ENST00000380152.8:c.117_121delinsTCCAC MANE Select ENSP00000369497.3:p.Ala39=
ENST00000544455.6:c.117_121delinsTCCAC ENSP00000439902.1:p.Ala39=
ENST00000614259.2:c.117_121delinsTCCAC ENSP00000506251.1:p.Ala39=
ENST00000680887.1:c.117_121delinsTCCAC ENSP00000505508.1:p.Ala39=
ENST00000380152.7:c.117_121delinsTCCAC ENSP00000369497.3:p.Ala39=
ENST00000530893.6:n.315_319delinsTCCAC
ENST00000544455.5:c.117_121delinsTCCAC ENSP00000439902.1:p.Ala39=
ENST00000614259.1:n.117_121delinsTCCAC
NM_000059.3:c.117_121delinsTCCAC , LRG_293t1:c.117_121delinsTCCAC NP_000050.2:p.Ala39=
XM_011535203.1:c.117_121delinsTCCAC XP_011533505.1:p.Ala39=
XM_011535204.1:c.117_121delinsTCCAC XP_011533506.1:p.Ala39=
XM_011535205.1:c.117_121delinsTCCAC XP_011533507.1:p.Ala39=
NM_000059.4:c.117_121delinsTCCAC MANE Select NP_000050.3:p.Ala39=