Canonical Allele Identifier: CA2082751208
Community Standard Title: NM_000059.4(BRCA2):c.2305_2306delinsCT (p.Leu769=)
Gene: BRCA2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32336660_32336661delinsCT , CM000675.2:g.32336660_32336661delinsCT GRCh38
NC_000013.10:g.32910797_32910798delinsCT , CM000675.1:g.32910797_32910798delinsCT GRCh37
NC_000013.9:g.31808797_31808798delinsCT NCBI36
NG_012772.3:g.26181_26182delinsCT , LRG_293:g.26181_26182delinsCT

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.2305_2306delinsCT MANE Select NP_000050.3:p.Leu769=
ENST00000380152.8:c.2305_2306delinsCT MANE Select ENSP00000369497.3:p.Leu769=
NM_000059.3:c.2305_2306delinsCT , LRG_293t1:c.2305_2306delinsCT NP_000050.2:p.Leu769=
ENST00000380152.7:c.2305_2306delinsCT ENSP00000369497.3:p.Leu769=
ENST00000470094.2:c.2305_2306delinsCT ENSP00000434898.2:p.Leu769=
ENST00000528762.2:c.2305_2306delinsCT ENSP00000433168.2:p.Leu769=
ENST00000530893.7:c.1936_1937delinsCT ENSP00000499438.2:p.Leu646=
ENST00000544455.5:c.2305_2306delinsCT ENSP00000439902.1:p.Leu769=
ENST00000544455.6:c.2305_2306delinsCT ENSP00000439902.1:p.Leu769=
ENST00000614259.1:n.2305_2306delinsCT
ENST00000614259.2:c.2305_2306delinsCT ENSP00000506251.1:p.Leu769=
ENST00000665585.2:c.2305_2306delinsCT ENSP00000499570.2:p.Leu769=
ENST00000666593.2:c.2305_2306delinsCT ENSP00000499256.2:p.Leu769=
ENST00000680887.1:c.2305_2306delinsCT ENSP00000505508.1:p.Leu769=
ENST00000700202.2:c.2305_2306delinsCT ENSP00000514856.2:p.Leu769=
XM_011535203.1:c.2305_2306delinsCT XP_011533505.1:p.Leu769=
XM_011535204.1:c.2305_2306delinsCT XP_011533506.1:p.Leu769=
XM_011535205.1:c.2305_2306delinsCT XP_011533507.1:p.Leu769=
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