Canonical Allele Identifier: CA2082828673
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376716_32376717delinsGC , CM000675.2:g.32376716_32376717delinsGC GRCh38
NC_000013.10:g.32950853_32950854delinsGC , CM000675.1:g.32950853_32950854delinsGC GRCh37
NC_000013.9:g.31848853_31848854delinsGC NCBI36
NG_012772.3:g.66237_66238delinsGC , LRG_293:g.66237_66238delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8679_8680delinsGC ENSP00000434898.2:p.Gln2893=
ENST00000528762.2:c.*46_*47delinsGC ENSP00000433168.2:n.*46_*47delinsGC
ENST00000530893.7:c.8310_8311delinsGC ENSP00000499438.2:p.Gln2770=
ENST00000665585.2:c.*241_*242delinsGC ENSP00000499570.2:n.*241_*242delinsGC
ENST00000666593.2:c.8679_8680delinsGC ENSP00000499256.2:p.Gln2893=
ENST00000700202.2:c.8679_8680delinsGC ENSP00000514856.2:p.Gln2893=
ENST00000700202.1:c.1146_1147delinsGC ENSP00000514856.1:p.Gln382=
ENST00000700203.1:n.806_807delinsGC
ENST00000380152.8:c.8679_8680delinsGC MANE Select ENSP00000369497.3:p.Gln2893=
ENST00000544455.6:c.8679_8680delinsGC ENSP00000439902.1:p.Gln2893=
ENST00000614259.2:c.8687_8688delinsGC ENSP00000506251.1:n.8687_8688delinsGC
ENST00000665585.1:c.1557_1558delinsGC
ENST00000680887.1:c.8679_8680delinsGC ENSP00000505508.1:p.Gln2893=
ENST00000380152.7:c.8679_8680delinsGC ENSP00000369497.3:p.Gln2893=
ENST00000528762.1:c.241_242delinsGC ENSP00000433168.1:n.241_242delinsGC
ENST00000544455.5:c.8679_8680delinsGC ENSP00000439902.1:p.Gln2893=
NM_000059.3:c.8679_8680delinsGC , LRG_293t1:c.8679_8680delinsGC NP_000050.2:p.Gln2893=
XM_011535203.1:c.8679_8680delinsGC XP_011533505.1:p.Gln2893=
XM_011535204.1:c.8583_8584delinsGC XP_011533506.1:p.Gln2861=
XM_011535205.1:c.8679_8680delinsGC XP_011533507.1:p.Gln2893=
NM_000059.4:c.8679_8680delinsGC MANE Select NP_000050.3:p.Gln2893=