Canonical Allele Identifier: CA16621042
Community Standard Title: NM_007194.4(CHEK2):c.1610C>T (p.Ala537Val)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28687919G>A , CM000684.2:g.28687919G>A GRCh38
NC_000022.10:g.29083907G>A , CM000684.1:g.29083907G>A GRCh37
NC_000022.9:g.27413907G>A NCBI36
NG_008150.1:g.58916C>T
NG_008150.2:g.58948C>T

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1610C>T MANE Select NP_009125.1:p.Ala537Val
ENST00000404276.6:c.1610C>T MANE Select ENSP00000385747.1:p.Ala537Val
NM_001005735.1:c.1739C>T NP_001005735.1:p.Ala580Val
NM_001005735.2:c.1739C>T NP_001005735.1:p.Ala580Val
NM_001257387.1:c.947C>T NP_001244316.1:p.Ala316Val
NM_001257387.2:c.947C>T NP_001244316.1:p.Ala316Val
NM_001349956.1:c.1409C>T NP_001336885.1:p.Ala470Val
NM_001349956.2:c.1409C>T NP_001336885.1:p.Ala470Val
NM_007194.3:c.1610C>T NP_009125.1:p.Ala537Val
NM_145862.2:c.1523C>T NP_665861.1:p.Ala508Val
ENST00000328354.10:c.1610C>T ENSP00000329178.6:p.Ala537Val
ENST00000348295.7:c.1523C>T ENSP00000329012.5:p.Ala508Val
ENST00000382580.6:c.1739C>T ENSP00000372023.2:p.Ala580Val
ENST00000402731.5:c.1523C>T ENSP00000384835.1:p.Ala508Val
ENST00000402731.6:c.1409C>T ENSP00000384835.2:p.Ala470Val
ENST00000403642.5:c.1337C>T ENSP00000384919.1:p.Ala446Val
ENST00000404276.5:c.1610C>T ENSP00000385747.1:p.Ala537Val
ENST00000405598.5:c.1610C>T ENSP00000386087.1:p.Ala537Val
ENST00000416671.5:c.*1100C>T ENSP00000402225.1:n.*1100C>T
ENST00000417588.5:c.1519C>T ENSP00000412901.1:n.1519C>T
ENST00000425190.7:c.947C>T ENSP00000390244.2:p.Ala316Val
ENST00000433728.5:c.1548C>T ENSP00000404400.1:n.1548C>T
ENST00000434810.5:c.808C>T
ENST00000448511.5:c.1500C>T ENSP00000404567.1:n.1500C>T
ENST00000456369.5:c.412C>T
ENST00000464581.6:c.950C>T ENSP00000483777.2:p.Ala317Val
ENST00000472807.1:n.344C>T
ENST00000648295.1:n.1162C>T
ENST00000649563.1:c.947C>T ENSP00000496928.1:p.Ala316Val
ENST00000650281.1:c.1610C>T ENSP00000497000.1:p.Ala537Val
ENST00000711048.1:c.*345C>T ENSP00000518557.1:n.*345C>T
XM_006724114.2:c.1130C>T XP_006724177.1:p.Ala377Val
XM_006724114.3:c.1163C>T XP_006724177.2:p.Ala388Val
XM_006724116.2:c.1067C>T XP_006724179.2:p.Ala356Val
XM_011529839.1:c.1769C>T XP_011528141.1:p.Ala590Val
XM_011529839.2:c.1769C>T XP_011528141.1:p.Ala590Val
XM_011529840.1:c.1682C>T XP_011528142.1:p.Ala561Val
XM_011529840.3:c.1682C>T XP_011528142.1:p.Ala561Val
XM_011529841.1:c.1538C>T XP_011528143.1:p.Ala513Val
XM_011529842.1:c.1439C>T XP_011528144.1:p.Ala480Val
XM_011529842.2:c.1439C>T XP_011528144.1:p.Ala480Val
XM_011529843.1:c.1409C>T XP_011528145.1:p.Ala470Val
XM_011529845.1:c.947C>T XP_011528147.1:p.Ala316Val
XM_011529845.2:c.947C>T XP_011528147.1:p.Ala316Val
XM_017028560.1:c.1733C>T XP_016884049.1:p.Ala578Val
XM_017028561.2:c.947C>T XP_016884050.1:p.Ala316Val
XM_024452148.1:c.1640C>T XP_024307916.1:p.Ala547Val
XM_024452149.1:c.1553C>T XP_024307917.1:p.Ala518Val
XR_937805.1:n.1769C>T
XR_937805.2:n.1780C>T