Canonical Allele Identifier: CA411099910

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 629342
• ClinVar RCV Id: RCV000774044 ; RCV001322772
• dbSNP Id: rs1569121419
• gnomAD v4: 22-28699898-A-T
• MyVariant Identifiers: chr22:g.29095886A>T (hg19) ; chr22:g.28699898A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699898A>T , CM000684.2:g.28699898A>T	GRCh38
NC_000022.10:g.29095886A>T , CM000684.1:g.29095886A>T	GRCh37
NC_000022.9:g.27425886A>T	NCBI36
NG_008150.1:g.46937T>A
NG_008150.2:g.46969T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.857T>A	ENSP00000396903.2:n.857T>A
ENST00000711048.1:c.948T>A	ENSP00000518557.1:p.Asn316Lys
ENST00000402731.6:c.747T>A	ENSP00000384835.2:p.Asn249Lys
ENST00000404276.6:c.948T>A MANE Select	ENSP00000385747.1:p.Asn316Lys
ENST00000425190.7:c.285T>A	ENSP00000390244.2:p.Asn95Lys
ENST00000464581.6:c.288T>A	ENSP00000483777.2:p.Asn96Lys
ENST00000648295.1:n.500T>A
ENST00000649563.1:c.285T>A	ENSP00000496928.1:p.Asn95Lys
ENST00000650281.1:c.948T>A	ENSP00000497000.1:p.Asn316Lys
ENST00000328354.10:c.948T>A	ENSP00000329178.6:p.Asn316Lys
ENST00000348295.7:c.948T>A	ENSP00000329012.5:p.Asn316Lys
ENST00000382580.6:c.1077T>A	ENSP00000372023.2:p.Asn359Lys
ENST00000402731.5:c.948T>A	ENSP00000384835.1:p.Asn316Lys
ENST00000403642.5:c.675T>A	ENSP00000384919.1:p.Asn225Lys
ENST00000404276.5:c.948T>A	ENSP00000385747.1:p.Asn316Lys
ENST00000405598.5:c.948T>A	ENSP00000386087.1:p.Asn316Lys
ENST00000416671.5:c.*438T>A	ENSP00000402225.1:n.*438T>A
ENST00000417588.5:c.857T>A	ENSP00000412901.1:n.857T>A
ENST00000425190.6:c.285T>A	ENSP00000390244.1:p.Asn95Lys
ENST00000433028.6:c.*673T>A	ENSP00000403659.1:n.*673T>A
ENST00000433728.5:c.886T>A	ENSP00000404400.1:n.886T>A
ENST00000434810.5:c.179T>A
ENST00000439346.5:c.419T>A	ENSP00000396903.1:n.419T>A
ENST00000447421.5:c.747T>A	ENSP00000397478.2:p.Asn249Lys
ENST00000448511.5:c.838T>A	ENSP00000404567.1:n.838T>A
ENST00000456369.5:c.203T>A
ENST00000464581.5:c.288T>A	ENSP00000483777.1:p.Asn96Lys
ENST00000491919.5:n.505T>A
NM_001005735.1:c.1077T>A	NP_001005735.1:p.Asn359Lys
NM_001257387.1:c.285T>A	NP_001244316.1:p.Asn95Lys
NM_007194.3:c.948T>A	NP_009125.1:p.Asn316Lys
NM_145862.2:c.948T>A	NP_665861.1:p.Asn316Lys
XM_006724114.2:c.468T>A	XP_006724177.1:p.Asn156Lys
XM_006724116.2:c.405T>A	XP_006724179.2:p.Asn135Lys
XM_011529839.1:c.1107T>A	XP_011528141.1:p.Asn369Lys
XM_011529840.1:c.1107T>A	XP_011528142.1:p.Asn369Lys
XM_011529841.1:c.876T>A	XP_011528143.1:p.Asn292Lys
XM_011529842.1:c.777T>A	XP_011528144.1:p.Asn259Lys
XM_011529843.1:c.747T>A	XP_011528145.1:p.Asn249Lys
XM_011529844.1:c.1107T>A	XP_011528146.1:p.Asn369Lys
XM_011529845.1:c.285T>A	XP_011528147.1:p.Asn95Lys
XR_937805.1:n.1107T>A
XR_937806.1:n.1102T>A
XR_937807.1:n.1102T>A
NM_001349956.1:c.747T>A	NP_001336885.1:p.Asn249Lys
NM_007194.4:c.948T>A MANE Select	NP_009125.1:p.Asn316Lys
XM_006724114.3:c.501T>A	XP_006724177.2:p.Asn167Lys
XM_011529839.2:c.1107T>A	XP_011528141.1:p.Asn369Lys
XM_011529840.3:c.1107T>A	XP_011528142.1:p.Asn369Lys
XM_011529842.2:c.777T>A	XP_011528144.1:p.Asn259Lys
XM_011529844.2:c.1107T>A	XP_011528146.1:p.Asn369Lys
XM_011529845.2:c.285T>A	XP_011528147.1:p.Asn95Lys
XM_017028560.1:c.1071T>A	XP_016884049.1:p.Asn357Lys
XM_017028561.2:c.285T>A	XP_016884050.1:p.Asn95Lys
XM_024452148.1:c.978T>A	XP_024307916.1:p.Asn326Lys
XM_024452149.1:c.978T>A	XP_024307917.1:p.Asn326Lys
XR_937805.2:n.1118T>A
XR_937806.2:n.1118T>A
XR_937807.2:n.1118T>A
NM_001005735.2:c.1077T>A	NP_001005735.1:p.Asn359Lys
NM_001257387.2:c.285T>A	NP_001244316.1:p.Asn95Lys
NM_001349956.2:c.747T>A	NP_001336885.1:p.Asn249Lys