Canonical Allele Identifier: CA2573149251
Community Standard Title: NM_000059.4(BRCA2):c.1364_1365delinsTG (p.Ser455Leu)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332842_32332843delinsTG , CM000675.2:g.32332842_32332843delinsTG GRCh38
NC_000013.10:g.32906979_32906980delinsTG , CM000675.1:g.32906979_32906980delinsTG GRCh37
NC_000013.9:g.31804979_31804980delinsTG NCBI36
NG_012772.3:g.22363_22364delinsTG , LRG_293:g.22363_22364delinsTG

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.1364_1365delinsTG MANE Select NP_000050.3:p.Ser455Leu
ENST00000380152.8:c.1364_1365delinsTG MANE Select ENSP00000369497.3:p.Ser455Leu
NM_000059.3:c.1364_1365delinsTG , LRG_293t1:c.1364_1365delinsTG NP_000050.2:p.Ser455Leu
ENST00000380152.7:c.1364_1365delinsTG ENSP00000369497.3:p.Ser455Leu
ENST00000470094.2:c.1364_1365delinsTG ENSP00000434898.2:p.Ser455Leu
ENST00000528762.2:c.1364_1365delinsTG ENSP00000433168.2:p.Ser455Leu
ENST00000530893.6:n.1562_1563delinsTG
ENST00000530893.7:c.995_996delinsTG ENSP00000499438.2:p.Ser332Leu
ENST00000544455.5:c.1364_1365delinsTG ENSP00000439902.1:p.Ser455Leu
ENST00000544455.6:c.1364_1365delinsTG ENSP00000439902.1:p.Ser455Leu
ENST00000614259.1:n.1364_1365delinsTG
ENST00000614259.2:c.1364_1365delinsTG ENSP00000506251.1:p.Ser455Leu
ENST00000665585.2:c.1364_1365delinsTG ENSP00000499570.2:p.Ser455Leu
ENST00000666593.2:c.1364_1365delinsTG ENSP00000499256.2:p.Ser455Leu
ENST00000680887.1:c.1364_1365delinsTG ENSP00000505508.1:p.Ser455Leu
ENST00000700201.1:c.*1143_*1144delinsTG ENSP00000514855.1:n.*1143_*1144delinsTG
ENST00000700202.2:c.1364_1365delinsTG ENSP00000514856.2:p.Ser455Leu
XM_011535203.1:c.1364_1365delinsTG XP_011533505.1:p.Ser455Leu
XM_011535204.1:c.1364_1365delinsTG XP_011533506.1:p.Ser455Leu
XM_011535205.1:c.1364_1365delinsTG XP_011533507.1:p.Ser455Leu