Canonical Allele Identifier: CA2082836047
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379431_32379432delinsCA , CM000675.2:g.32379431_32379432delinsCA GRCh38
NC_000013.10:g.32953568_32953569delinsCA , CM000675.1:g.32953568_32953569delinsCA GRCh37
NC_000013.9:g.31851568_31851569delinsCA NCBI36
NG_012772.3:g.68952_68953delinsCA , LRG_293:g.68952_68953delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8869_8870delinsCA ENSP00000434898.2:p.Gln2957=
ENST00000528762.2:c.*236_*237delinsCA ENSP00000433168.2:n.*236_*237delinsCA
ENST00000530893.7:c.8500_8501delinsCA ENSP00000499438.2:p.Gln2834=
ENST00000665585.2:c.*431_*432delinsCA ENSP00000499570.2:n.*431_*432delinsCA
ENST00000666593.2:c.8869_8870delinsCA ENSP00000499256.2:p.Gln2957=
ENST00000700202.2:c.8869_8870delinsCA ENSP00000514856.2:p.Gln2957=
ENST00000700202.1:c.1336_1337delinsCA ENSP00000514856.1:p.Gln446=
ENST00000700203.1:n.996_997delinsCA
ENST00000380152.8:c.8869_8870delinsCA MANE Select ENSP00000369497.3:p.Gln2957=
ENST00000544455.6:c.8869_8870delinsCA ENSP00000439902.1:p.Gln2957=
ENST00000614259.2:c.8877_8878delinsCA ENSP00000506251.1:n.8877_8878delinsCA
ENST00000665585.1:c.1747_1748delinsCA
ENST00000680887.1:c.8869_8870delinsCA ENSP00000505508.1:p.Gln2957=
ENST00000380152.7:c.8869_8870delinsCA ENSP00000369497.3:p.Gln2957=
ENST00000528762.1:c.431_432delinsCA ENSP00000433168.1:n.431_432delinsCA
ENST00000544455.5:c.8869_8870delinsCA ENSP00000439902.1:p.Gln2957=
NM_000059.3:c.8869_8870delinsCA , LRG_293t1:c.8869_8870delinsCA NP_000050.2:p.Gln2957=
XM_011535203.1:c.8869_8870delinsCA XP_011533505.1:p.Gln2957=
XM_011535204.1:c.8773_8774delinsCA XP_011533506.1:p.Gln2925=
XM_011535205.1:c.8755-319_8755-318delinsCA XP_011533507.1:n.8755-319_8755-318delinsCA
NM_000059.4:c.8869_8870delinsCA MANE Select NP_000050.3:p.Gln2957=