Canonical Allele Identifier: CA411092695
Community Standard Title: NM_007194.4(CHEK2):c.1470C>G (p.Asp490Glu)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28689207G>C , CM000684.2:g.28689207G>C GRCh38
NC_000022.10:g.29085195G>C , CM000684.1:g.29085195G>C GRCh37
NC_000022.9:g.27415195G>C NCBI36
NG_008150.1:g.57628C>G
NG_008150.2:g.57660C>G

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1470C>G MANE Select NP_009125.1:p.Asp490Glu
ENST00000404276.6:c.1470C>G MANE Select ENSP00000385747.1:p.Asp490Glu
NM_001005735.1:c.1599C>G NP_001005735.1:p.Asp533Glu
NM_001005735.2:c.1599C>G NP_001005735.1:p.Asp533Glu
NM_001257387.1:c.807C>G NP_001244316.1:p.Asp269Glu
NM_001257387.2:c.807C>G NP_001244316.1:p.Asp269Glu
NM_001349956.1:c.1269C>G NP_001336885.1:p.Asp423Glu
NM_001349956.2:c.1269C>G NP_001336885.1:p.Asp423Glu
NM_007194.3:c.1470C>G NP_009125.1:p.Asp490Glu
NM_145862.2:c.1383C>G NP_665861.1:p.Asp461Glu
ENST00000328354.10:c.1470C>G ENSP00000329178.6:p.Asp490Glu
ENST00000348295.7:c.1383C>G ENSP00000329012.5:p.Asp461Glu
ENST00000382580.6:c.1599C>G ENSP00000372023.2:p.Asp533Glu
ENST00000402731.5:c.1383C>G ENSP00000384835.1:p.Asp461Glu
ENST00000402731.6:c.1269C>G ENSP00000384835.2:p.Asp423Glu
ENST00000403642.5:c.1197C>G ENSP00000384919.1:p.Asp399Glu
ENST00000404276.5:c.1470C>G ENSP00000385747.1:p.Asp490Glu
ENST00000405598.5:c.1470C>G ENSP00000386087.1:p.Asp490Glu
ENST00000416671.5:c.*960C>G ENSP00000402225.1:n.*960C>G
ENST00000417588.5:c.1379C>G ENSP00000412901.1:n.1379C>G
ENST00000425190.7:c.807C>G ENSP00000390244.2:p.Asp269Glu
ENST00000433728.5:c.1408C>G ENSP00000404400.1:n.1408C>G
ENST00000434810.5:c.668C>G
ENST00000448511.5:c.1360C>G ENSP00000404567.1:n.1360C>G
ENST00000456369.5:c.272C>G
ENST00000464581.6:c.810C>G ENSP00000483777.2:p.Asp270Glu
ENST00000472807.1:n.204C>G
ENST00000648295.1:n.1022C>G
ENST00000649563.1:c.807C>G ENSP00000496928.1:p.Asp269Glu
ENST00000650281.1:c.1470C>G ENSP00000497000.1:p.Asp490Glu
ENST00000711048.1:c.*205C>G ENSP00000518557.1:n.*205C>G
XM_006724114.2:c.990C>G XP_006724177.1:p.Asp330Glu
XM_006724114.3:c.1023C>G XP_006724177.2:p.Asp341Glu
XM_006724116.2:c.927C>G XP_006724179.2:p.Asp309Glu
XM_011529839.1:c.1629C>G XP_011528141.1:p.Asp543Glu
XM_011529839.2:c.1629C>G XP_011528141.1:p.Asp543Glu
XM_011529840.1:c.1542C>G XP_011528142.1:p.Asp514Glu
XM_011529840.3:c.1542C>G XP_011528142.1:p.Asp514Glu
XM_011529841.1:c.1398C>G XP_011528143.1:p.Asp466Glu
XM_011529842.1:c.1299C>G XP_011528144.1:p.Asp433Glu
XM_011529842.2:c.1299C>G XP_011528144.1:p.Asp433Glu
XM_011529843.1:c.1269C>G XP_011528145.1:p.Asp423Glu
XM_011529845.1:c.807C>G XP_011528147.1:p.Asp269Glu
XM_011529845.2:c.807C>G XP_011528147.1:p.Asp269Glu
XM_017028560.1:c.1593C>G XP_016884049.1:p.Asp531Glu
XM_017028561.2:c.807C>G XP_016884050.1:p.Asp269Glu
XM_024452148.1:c.1500C>G XP_024307916.1:p.Asp500Glu
XM_024452149.1:c.1413C>G XP_024307917.1:p.Asp471Glu
XR_937805.1:n.1629C>G
XR_937805.2:n.1640C>G