Canonical Allele Identifier: CA411102491

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28710052G>A , CM000684.2:g.28710052G>A	GRCh38
NC_000022.10:g.29106040G>A , CM000684.1:g.29106040G>A	GRCh37
NC_000022.9:g.27436040G>A	NCBI36
NG_008150.1:g.36783C>T
NG_008150.2:g.36815C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.800C>T MANE Select	NP_009125.1:p.Ala267Val
ENST00000404276.6:c.800C>T MANE Select	ENSP00000385747.1:p.Ala267Val
NM_001005735.1:c.929C>T	NP_001005735.1:p.Ala310Val
NM_001005735.2:c.929C>T	NP_001005735.1:p.Ala310Val
NM_001257387.1:c.137C>T	NP_001244316.1:p.Ala46Val
NM_001257387.2:c.137C>T	NP_001244316.1:p.Ala46Val
NM_001349956.1:c.599C>T	NP_001336885.1:p.Ala200Val
NM_001349956.2:c.599C>T	NP_001336885.1:p.Ala200Val
NM_007194.3:c.800C>T	NP_009125.1:p.Ala267Val
NM_145862.2:c.800C>T	NP_665861.1:p.Ala267Val
ENST00000328354.10:c.800C>T	ENSP00000329178.6:p.Ala267Val
ENST00000348295.7:c.800C>T	ENSP00000329012.5:p.Ala267Val
ENST00000382580.6:c.929C>T	ENSP00000372023.2:p.Ala310Val
ENST00000402731.5:c.800C>T	ENSP00000384835.1:p.Ala267Val
ENST00000402731.6:c.599C>T	ENSP00000384835.2:p.Ala200Val
ENST00000403642.5:c.527C>T	ENSP00000384919.1:p.Ala176Val
ENST00000404276.5:c.800C>T	ENSP00000385747.1:p.Ala267Val
ENST00000405598.5:c.800C>T	ENSP00000386087.1:p.Ala267Val
ENST00000416671.5:c.*290C>T	ENSP00000402225.1:n.*290C>T
ENST00000417588.5:c.709C>T	ENSP00000412901.1:n.709C>T
ENST00000425190.6:c.137C>T	ENSP00000390244.1:p.Ala46Val
ENST00000425190.7:c.137C>T	ENSP00000390244.2:p.Ala46Val
ENST00000433028.6:c.*525C>T	ENSP00000403659.1:n.*525C>T
ENST00000433728.5:c.800C>T	ENSP00000404400.1:p.Ala267Val
ENST00000434810.5:c.31C>T
ENST00000439346.5:c.271C>T	ENSP00000396903.1:n.271C>T
ENST00000439346.6:c.709C>T	ENSP00000396903.2:n.709C>T
ENST00000447421.5:c.599C>T	ENSP00000397478.2:p.Ala200Val
ENST00000448511.5:c.690C>T	ENSP00000404567.1:n.690C>T
ENST00000456369.5:c.55C>T
ENST00000464581.5:c.140C>T	ENSP00000483777.1:p.Ala47Val
ENST00000464581.6:c.140C>T	ENSP00000483777.2:p.Ala47Val
ENST00000491919.5:n.357C>T
ENST00000648295.1:n.352C>T
ENST00000649563.1:c.137C>T	ENSP00000496928.1:p.Ala46Val
ENST00000650281.1:c.800C>T	ENSP00000497000.1:p.Ala267Val
ENST00000711048.1:c.800C>T	ENSP00000518557.1:p.Ala267Val
XM_006724114.2:c.320C>T	XP_006724177.1:p.Ala107Val
XM_006724114.3:c.353C>T	XP_006724177.2:p.Ala118Val
XM_006724116.2:c.257C>T	XP_006724179.2:p.Ala86Val
XM_011529839.1:c.959C>T	XP_011528141.1:p.Ala320Val
XM_011529839.2:c.959C>T	XP_011528141.1:p.Ala320Val
XM_011529840.1:c.959C>T	XP_011528142.1:p.Ala320Val
XM_011529840.3:c.959C>T	XP_011528142.1:p.Ala320Val
XM_011529841.1:c.728C>T	XP_011528143.1:p.Ala243Val
XM_011529842.1:c.629C>T	XP_011528144.1:p.Ala210Val
XM_011529842.2:c.629C>T	XP_011528144.1:p.Ala210Val
XM_011529843.1:c.599C>T	XP_011528145.1:p.Ala200Val
XM_011529844.1:c.959C>T	XP_011528146.1:p.Ala320Val
XM_011529844.2:c.959C>T	XP_011528146.1:p.Ala320Val
XM_011529845.1:c.137C>T	XP_011528147.1:p.Ala46Val
XM_011529845.2:c.137C>T	XP_011528147.1:p.Ala46Val
XM_017028560.1:c.923C>T	XP_016884049.1:p.Ala308Val
XM_017028561.2:c.137C>T	XP_016884050.1:p.Ala46Val
XM_024452148.1:c.830C>T	XP_024307916.1:p.Ala277Val
XM_024452149.1:c.830C>T	XP_024307917.1:p.Ala277Val
XR_937805.1:n.1021C>T
XR_937805.2:n.1032C>T
XR_937806.1:n.1016C>T
XR_937806.2:n.1032C>T
XR_937807.1:n.1016C>T
XR_937807.2:n.1032C>T