Canonical Allele Identifier: CA411091194

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28687941C>T , CM000684.2:g.28687941C>T	GRCh38
NC_000022.10:g.29083929C>T , CM000684.1:g.29083929C>T	GRCh37
NC_000022.9:g.27413929C>T	NCBI36
NG_008150.1:g.58894G>A
NG_008150.2:g.58926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*323G>A	ENSP00000518557.1:n.*323G>A
ENST00000402731.6:c.1387G>A	ENSP00000384835.2:p.Ala463Thr
ENST00000404276.6:c.1588G>A MANE Select	ENSP00000385747.1:p.Ala530Thr
ENST00000425190.7:c.925G>A	ENSP00000390244.2:p.Ala309Thr
ENST00000464581.6:c.928G>A	ENSP00000483777.2:p.Ala310Thr
ENST00000648295.1:n.1140G>A
ENST00000649563.1:c.925G>A	ENSP00000496928.1:p.Ala309Thr
ENST00000650281.1:c.1588G>A	ENSP00000497000.1:p.Ala530Thr
ENST00000328354.10:c.1588G>A	ENSP00000329178.6:p.Ala530Thr
ENST00000348295.7:c.1501G>A	ENSP00000329012.5:p.Ala501Thr
ENST00000382580.6:c.1717G>A	ENSP00000372023.2:p.Ala573Thr
ENST00000402731.5:c.1501G>A	ENSP00000384835.1:p.Ala501Thr
ENST00000403642.5:c.1315G>A	ENSP00000384919.1:p.Ala439Thr
ENST00000404276.5:c.1588G>A	ENSP00000385747.1:p.Ala530Thr
ENST00000405598.5:c.1588G>A	ENSP00000386087.1:p.Ala530Thr
ENST00000416671.5:c.*1078G>A	ENSP00000402225.1:n.*1078G>A
ENST00000417588.5:c.1497G>A	ENSP00000412901.1:n.1497G>A
ENST00000433728.5:c.1526G>A	ENSP00000404400.1:n.1526G>A
ENST00000434810.5:c.786G>A
ENST00000448511.5:c.1478G>A	ENSP00000404567.1:n.1478G>A
ENST00000456369.5:c.390G>A
ENST00000472807.1:n.322G>A
NM_001005735.1:c.1717G>A	NP_001005735.1:p.Ala573Thr
NM_001257387.1:c.925G>A	NP_001244316.1:p.Ala309Thr
NM_007194.3:c.1588G>A	NP_009125.1:p.Ala530Thr
NM_145862.2:c.1501G>A	NP_665861.1:p.Ala501Thr
XM_006724114.2:c.1108G>A	XP_006724177.1:p.Ala370Thr
XM_006724116.2:c.1045G>A	XP_006724179.2:p.Ala349Thr
XM_011529839.1:c.1747G>A	XP_011528141.1:p.Ala583Thr
XM_011529840.1:c.1660G>A	XP_011528142.1:p.Ala554Thr
XM_011529841.1:c.1516G>A	XP_011528143.1:p.Ala506Thr
XM_011529842.1:c.1417G>A	XP_011528144.1:p.Ala473Thr
XM_011529843.1:c.1387G>A	XP_011528145.1:p.Ala463Thr
XM_011529845.1:c.925G>A	XP_011528147.1:p.Ala309Thr
XR_937805.1:n.1747G>A
NM_001349956.1:c.1387G>A	NP_001336885.1:p.Ala463Thr
NM_007194.4:c.1588G>A MANE Select	NP_009125.1:p.Ala530Thr
XM_006724114.3:c.1141G>A	XP_006724177.2:p.Ala381Thr
XM_011529839.2:c.1747G>A	XP_011528141.1:p.Ala583Thr
XM_011529840.3:c.1660G>A	XP_011528142.1:p.Ala554Thr
XM_011529842.2:c.1417G>A	XP_011528144.1:p.Ala473Thr
XM_011529845.2:c.925G>A	XP_011528147.1:p.Ala309Thr
XM_017028560.1:c.1711G>A	XP_016884049.1:p.Ala571Thr
XM_017028561.2:c.925G>A	XP_016884050.1:p.Ala309Thr
XM_024452148.1:c.1618G>A	XP_024307916.1:p.Ala540Thr
XM_024452149.1:c.1531G>A	XP_024307917.1:p.Ala511Thr
XR_937805.2:n.1758G>A
NM_001005735.2:c.1717G>A	NP_001005735.1:p.Ala573Thr
NM_001257387.2:c.925G>A	NP_001244316.1:p.Ala309Thr
NM_001349956.2:c.1387G>A	NP_001336885.1:p.Ala463Thr