Canonical Allele Identifier: CA2082764523
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332536_32332537delinsCA , CM000675.2:g.32332536_32332537delinsCA GRCh38
NC_000013.10:g.32906673_32906674delinsCA , CM000675.1:g.32906673_32906674delinsCA GRCh37
NC_000013.9:g.31804673_31804674delinsCA NCBI36
NG_012772.3:g.22057_22058delinsCA , LRG_293:g.22057_22058delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.1058_1059delinsCA ENSP00000434898.2:p.Ser353=
ENST00000528762.2:c.1058_1059delinsCA ENSP00000433168.2:p.Ser353=
ENST00000530893.7:c.689_690delinsCA ENSP00000499438.2:p.Ser230=
ENST00000665585.2:c.1058_1059delinsCA ENSP00000499570.2:p.Ser353=
ENST00000666593.2:c.1058_1059delinsCA ENSP00000499256.2:p.Ser353=
ENST00000700202.2:c.1058_1059delinsCA ENSP00000514856.2:p.Ser353=
ENST00000700201.1:c.*837_*838delinsCA ENSP00000514855.1:n.*837_*838delinsCA
ENST00000380152.8:c.1058_1059delinsCA MANE Select ENSP00000369497.3:p.Ser353=
ENST00000544455.6:c.1058_1059delinsCA ENSP00000439902.1:p.Ser353=
ENST00000614259.2:c.1058_1059delinsCA ENSP00000506251.1:p.Ser353=
ENST00000680887.1:c.1058_1059delinsCA ENSP00000505508.1:p.Ser353=
ENST00000380152.7:c.1058_1059delinsCA ENSP00000369497.3:p.Ser353=
ENST00000530893.6:n.1256_1257delinsCA
ENST00000544455.5:c.1058_1059delinsCA ENSP00000439902.1:p.Ser353=
ENST00000614259.1:n.1058_1059delinsCA
NM_000059.3:c.1058_1059delinsCA , LRG_293t1:c.1058_1059delinsCA NP_000050.2:p.Ser353=
XM_011535203.1:c.1058_1059delinsCA XP_011533505.1:p.Ser353=
XM_011535204.1:c.1058_1059delinsCA XP_011533506.1:p.Ser353=
XM_011535205.1:c.1058_1059delinsCA XP_011533507.1:p.Ser353=
NM_000059.4:c.1058_1059delinsCA MANE Select NP_000050.3:p.Ser353=