Canonical Allele Identifier: CA645573203
Community Standard Title: NM_000059.4(BRCA2):c.2309_2310insAA (p.Leu771IlefsTer2)
Gene: BRCA2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32336664_32336665insAA , CM000675.2:g.32336664_32336665insAA GRCh38
NC_000013.10:g.32910801_32910802insAA , CM000675.1:g.32910801_32910802insAA GRCh37
NC_000013.9:g.31808801_31808802insAA NCBI36
NG_012772.3:g.26185_26186insAA , LRG_293:g.26185_26186insAA

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.2309_2310insAA MANE Select NP_000050.3:p.Leu771IlefsTer2
ENST00000380152.8:c.2309_2310insAA MANE Select ENSP00000369497.3:p.Leu771IlefsTer2
NM_000059.3:c.2309_2310insAA , LRG_293t1:c.2309_2310insAA NP_000050.2:p.Leu771IlefsTer2
ENST00000380152.7:c.2309_2310insAA ENSP00000369497.3:p.Leu771IlefsTer2
ENST00000470094.2:c.2309_2310insAA ENSP00000434898.2:p.Leu771IlefsTer2
ENST00000528762.2:c.2309_2310insAA ENSP00000433168.2:p.Leu771IlefsTer2
ENST00000530893.7:c.1940_1941insAA ENSP00000499438.2:p.Leu648IlefsTer2
ENST00000544455.5:c.2309_2310insAA ENSP00000439902.1:p.Leu771IlefsTer2
ENST00000544455.6:c.2309_2310insAA ENSP00000439902.1:p.Leu771IlefsTer2
ENST00000614259.1:n.2309_2310insAA
ENST00000614259.2:c.2309_2310insAA ENSP00000506251.1:p.Leu771IlefsTer2
ENST00000665585.2:c.2309_2310insAA ENSP00000499570.2:p.Leu771IlefsTer2
ENST00000666593.2:c.2309_2310insAA ENSP00000499256.2:p.Leu771IlefsTer2
ENST00000680887.1:c.2309_2310insAA ENSP00000505508.1:p.Leu771IlefsTer2
ENST00000700202.2:c.2309_2310insAA ENSP00000514856.2:p.Leu771IlefsTer2
XM_011535203.1:c.2309_2310insAA XP_011533505.1:p.Leu771IlefsTer2
XM_011535204.1:c.2309_2310insAA XP_011533506.1:p.Leu771IlefsTer2
XM_011535205.1:c.2309_2310insAA XP_011533507.1:p.Leu771IlefsTer2
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