Canonical Allele Identifier: CA411103191

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 491635
• ClinVar RCV Id: RCV000584130 ; RCV001386328 ; RCV001788295
• dbSNP Id: rs786201896
• gnomAD v4: 22-28711944-T-A
• MyVariant Identifiers: chr22:g.29107932T>A (hg19) ; chr22:g.28711944T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28711944T>A , CM000684.2:g.28711944T>A	GRCh38
NC_000022.10:g.29107932T>A , CM000684.1:g.29107932T>A	GRCh37
NC_000022.9:g.27437932T>A	NCBI36
NG_008150.1:g.34891A>T
NG_008150.2:g.34923A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.666A>T	ENSP00000396903.2:n.666A>T
ENST00000711048.1:c.757A>T	ENSP00000518557.1:p.Lys253Ter
ENST00000402731.6:c.556A>T	ENSP00000384835.2:p.Lys186Ter
ENST00000404276.6:c.757A>T MANE Select	ENSP00000385747.1:p.Lys253Ter
ENST00000425190.7:c.94A>T	ENSP00000390244.2:p.Lys32Ter
ENST00000464581.6:c.97A>T	ENSP00000483777.2:p.Lys33Ter
ENST00000648295.1:n.309A>T
ENST00000649563.1:c.94A>T	ENSP00000496928.1:p.Lys32Ter
ENST00000650281.1:c.757A>T	ENSP00000497000.1:p.Lys253Ter
ENST00000328354.10:c.757A>T	ENSP00000329178.6:p.Lys253Ter
ENST00000348295.7:c.757A>T	ENSP00000329012.5:p.Lys253Ter
ENST00000382580.6:c.886A>T	ENSP00000372023.2:p.Lys296Ter
ENST00000402731.5:c.757A>T	ENSP00000384835.1:p.Lys253Ter
ENST00000403642.5:c.484A>T	ENSP00000384919.1:p.Lys162Ter
ENST00000404276.5:c.757A>T	ENSP00000385747.1:p.Lys253Ter
ENST00000405598.5:c.757A>T	ENSP00000386087.1:p.Lys253Ter
ENST00000416671.5:c.*247A>T	ENSP00000402225.1:n.*247A>T
ENST00000417588.5:c.666A>T	ENSP00000412901.1:n.666A>T
ENST00000425190.6:c.94A>T	ENSP00000390244.1:p.Lys32Ter
ENST00000433028.6:c.*482A>T	ENSP00000403659.1:n.*482A>T
ENST00000433728.5:c.757A>T	ENSP00000404400.1:p.Lys253Ter
ENST00000439200.5:c.850A>T	ENSP00000408065.1:p.Lys284Ter
ENST00000439346.5:c.228A>T	ENSP00000396903.1:n.228A>T
ENST00000447421.5:c.556A>T	ENSP00000397478.2:p.Lys186Ter
ENST00000448511.5:c.647A>T	ENSP00000404567.1:n.647A>T
ENST00000456369.5:c.12A>T
ENST00000464581.5:c.97A>T	ENSP00000483777.1:p.Lys33Ter
ENST00000491919.5:n.314A>T
NM_001005735.1:c.886A>T	NP_001005735.1:p.Lys296Ter
NM_001257387.1:c.94A>T	NP_001244316.1:p.Lys32Ter
NM_007194.3:c.757A>T	NP_009125.1:p.Lys253Ter
NM_145862.2:c.757A>T	NP_665861.1:p.Lys253Ter
XM_006724114.2:c.277A>T	XP_006724177.1:p.Lys93Ter
XM_006724116.2:c.214A>T	XP_006724179.2:p.Lys72Ter
XM_011529839.1:c.916A>T	XP_011528141.1:p.Lys306Ter
XM_011529840.1:c.916A>T	XP_011528142.1:p.Lys306Ter
XM_011529841.1:c.685A>T	XP_011528143.1:p.Lys229Ter
XM_011529842.1:c.586A>T	XP_011528144.1:p.Lys196Ter
XM_011529843.1:c.556A>T	XP_011528145.1:p.Lys186Ter
XM_011529844.1:c.916A>T	XP_011528146.1:p.Lys306Ter
XM_011529845.1:c.94A>T	XP_011528147.1:p.Lys32Ter
XR_937805.1:n.978A>T
XR_937806.1:n.973A>T
XR_937807.1:n.973A>T
NM_001349956.1:c.556A>T	NP_001336885.1:p.Lys186Ter
NM_007194.4:c.757A>T MANE Select	NP_009125.1:p.Lys253Ter
XM_006724114.3:c.310A>T	XP_006724177.2:p.Lys104Ter
XM_011529839.2:c.916A>T	XP_011528141.1:p.Lys306Ter
XM_011529840.3:c.916A>T	XP_011528142.1:p.Lys306Ter
XM_011529842.2:c.586A>T	XP_011528144.1:p.Lys196Ter
XM_011529844.2:c.916A>T	XP_011528146.1:p.Lys306Ter
XM_011529845.2:c.94A>T	XP_011528147.1:p.Lys32Ter
XM_017028560.1:c.880A>T	XP_016884049.1:p.Lys294Ter
XM_017028561.2:c.94A>T	XP_016884050.1:p.Lys32Ter
XM_024452148.1:c.787A>T	XP_024307916.1:p.Lys263Ter
XM_024452149.1:c.787A>T	XP_024307917.1:p.Lys263Ter
XR_937805.2:n.989A>T
XR_937806.2:n.989A>T
XR_937807.2:n.989A>T
NM_001005735.2:c.886A>T	NP_001005735.1:p.Lys296Ter
NM_001257387.2:c.94A>T	NP_001244316.1:p.Lys32Ter
NM_001349956.2:c.556A>T	NP_001336885.1:p.Lys186Ter