Canonical Allele Identifier: CA16609080

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 377661
• ClinVar RCV Id: RCV000635967 ; RCV001705557 ; RCV001011883
• dbSNP Id: rs1052262892
• gnomAD v2: 22-29085147-T-C
• gnomAD v3: 22-28689159-T-C
• gnomAD v4: 22-28689159-T-C
• MyVariant Identifiers: chr22:g.29085147T>C (hg19) ; chr22:g.28689159T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689159T>C , CM000684.2:g.28689159T>C	GRCh38
NC_000022.10:g.29085147T>C , CM000684.1:g.29085147T>C	GRCh37
NC_000022.9:g.27415147T>C	NCBI36
NG_008150.1:g.57676A>G
NG_008150.2:g.57708A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*253A>G	ENSP00000518557.1:n.*253A>G
ENST00000402731.6:c.1317A>G	ENSP00000384835.2:p.Thr439=
ENST00000404276.6:c.1518A>G MANE Select	ENSP00000385747.1:p.Thr506=
ENST00000425190.7:c.855A>G	ENSP00000390244.2:p.Thr285=
ENST00000464581.6:c.858A>G	ENSP00000483777.2:p.Thr286=
ENST00000648295.1:n.1070A>G
ENST00000649563.1:c.855A>G	ENSP00000496928.1:p.Thr285=
ENST00000650281.1:c.1518A>G	ENSP00000497000.1:p.Thr506=
ENST00000328354.10:c.1518A>G	ENSP00000329178.6:p.Thr506=
ENST00000348295.7:c.1431A>G	ENSP00000329012.5:p.Thr477=
ENST00000382580.6:c.1647A>G	ENSP00000372023.2:p.Thr549=
ENST00000402731.5:c.1431A>G	ENSP00000384835.1:p.Thr477=
ENST00000403642.5:c.1245A>G	ENSP00000384919.1:p.Thr415=
ENST00000404276.5:c.1518A>G	ENSP00000385747.1:p.Thr506=
ENST00000405598.5:c.1518A>G	ENSP00000386087.1:p.Thr506=
ENST00000416671.5:c.*1008A>G	ENSP00000402225.1:n.*1008A>G
ENST00000417588.5:c.1427A>G	ENSP00000412901.1:n.1427A>G
ENST00000433728.5:c.1456A>G	ENSP00000404400.1:n.1456A>G
ENST00000434810.5:c.716A>G
ENST00000448511.5:c.1408A>G	ENSP00000404567.1:n.1408A>G
ENST00000456369.5:c.320A>G
ENST00000472807.1:n.252A>G
NM_001005735.1:c.1647A>G	NP_001005735.1:p.Thr549=
NM_001257387.1:c.855A>G	NP_001244316.1:p.Thr285=
NM_007194.3:c.1518A>G	NP_009125.1:p.Thr506=
NM_145862.2:c.1431A>G	NP_665861.1:p.Thr477=
XM_006724114.2:c.1038A>G	XP_006724177.1:p.Thr346=
XM_006724116.2:c.975A>G	XP_006724179.2:p.Thr325=
XM_011529839.1:c.1677A>G	XP_011528141.1:p.Thr559=
XM_011529840.1:c.1590A>G	XP_011528142.1:p.Thr530=
XM_011529841.1:c.1446A>G	XP_011528143.1:p.Thr482=
XM_011529842.1:c.1347A>G	XP_011528144.1:p.Thr449=
XM_011529843.1:c.1317A>G	XP_011528145.1:p.Thr439=
XM_011529845.1:c.855A>G	XP_011528147.1:p.Thr285=
XR_937805.1:n.1677A>G
NM_001349956.1:c.1317A>G	NP_001336885.1:p.Thr439=
NM_007194.4:c.1518A>G MANE Select	NP_009125.1:p.Thr506=
XM_006724114.3:c.1071A>G	XP_006724177.2:p.Thr357=
XM_011529839.2:c.1677A>G	XP_011528141.1:p.Thr559=
XM_011529840.3:c.1590A>G	XP_011528142.1:p.Thr530=
XM_011529842.2:c.1347A>G	XP_011528144.1:p.Thr449=
XM_011529845.2:c.855A>G	XP_011528147.1:p.Thr285=
XM_017028560.1:c.1641A>G	XP_016884049.1:p.Thr547=
XM_017028561.2:c.855A>G	XP_016884050.1:p.Thr285=
XM_024452148.1:c.1548A>G	XP_024307916.1:p.Thr516=
XM_024452149.1:c.1461A>G	XP_024307917.1:p.Thr487=
XR_937805.2:n.1688A>G
NM_001005735.2:c.1647A>G	NP_001005735.1:p.Thr549=
NM_001257387.2:c.855A>G	NP_001244316.1:p.Thr285=
NM_001349956.2:c.1317A>G	NP_001336885.1:p.Thr439=