Canonical Allele Identifier: CA2082834841
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398266_32398267delinsGT , CM000675.2:g.32398266_32398267delinsGT GRCh38
NC_000013.10:g.32972403_32972404delinsGT , CM000675.1:g.32972403_32972404delinsGT GRCh37
NC_000013.9:g.31870403_31870404delinsGT NCBI36
NG_012772.3:g.87787_87788delinsGT , LRG_293:g.87787_87788delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*276_*277delinsGT ENSP00000434898.2:n.*276_*277delinsGT
ENST00000528762.2:c.*1120_*1121delinsGT ENSP00000433168.2:n.*1120_*1121delinsGT
ENST00000530893.7:c.9384_9385delinsGT ENSP00000499438.2:p.Lys3128=
ENST00000665585.2:c.*1315_*1316delinsGT ENSP00000499570.2:n.*1315_*1316delinsGT
ENST00000700202.2:c.9702_9703delinsGT ENSP00000514856.2:p.Lys3234=
ENST00000700202.1:c.2169_2170delinsGT ENSP00000514856.1:p.Lys723=
ENST00000700203.1:n.1880_1881delinsGT
ENST00000380152.8:c.9753_9754delinsGT MANE Select ENSP00000369497.3:p.Lys3251=
ENST00000544455.6:c.9753_9754delinsGT ENSP00000439902.1:p.Lys3251=
ENST00000614259.2:c.9761_9762delinsGT ENSP00000506251.1:n.9761_9762delinsGT
ENST00000680887.1:c.9753_9754delinsGT ENSP00000505508.1:p.Lys3251=
ENST00000380152.7:c.9753_9754delinsGT ENSP00000369497.3:p.Lys3251=
ENST00000470094.1:c.836_837delinsGT
ENST00000533776.1:n.341_342delinsGT
ENST00000544455.5:c.9753_9754delinsGT ENSP00000439902.1:p.Lys3251=
NM_000059.3:c.9753_9754delinsGT , LRG_293t1:c.9753_9754delinsGT NP_000050.2:p.Lys3251=
XM_011535203.1:c.9753_9754delinsGT XP_011533505.1:p.Lys3251=
XM_011535204.1:c.9657_9658delinsGT XP_011533506.1:p.Lys3219=
NM_000059.4:c.9753_9754delinsGT MANE Select NP_000050.3:p.Lys3251=