Canonical Allele Identifier: CA288272

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695232A>G , CM000684.2:g.28695232A>G	GRCh38
NC_000022.10:g.29091220A>G , CM000684.1:g.29091220A>G	GRCh37
NC_000022.9:g.27421220A>G	NCBI36
NG_008150.1:g.51603T>C
NG_008150.2:g.51635T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*5T>C	ENSP00000518557.1:n.*5T>C
ENST00000402731.6:c.1069T>C	ENSP00000384835.2:p.Tyr357His
ENST00000404276.6:c.1270T>C MANE Select	ENSP00000385747.1:p.Tyr424His
ENST00000425190.7:c.607T>C	ENSP00000390244.2:p.Tyr203His
ENST00000464581.6:c.610T>C	ENSP00000483777.2:p.Tyr204His
ENST00000648295.1:n.822T>C
ENST00000649563.1:c.607T>C	ENSP00000496928.1:p.Tyr203His
ENST00000650281.1:c.1270T>C	ENSP00000497000.1:p.Tyr424His
ENST00000328354.10:c.1270T>C	ENSP00000329178.6:p.Tyr424His
ENST00000348295.7:c.1183T>C	ENSP00000329012.5:p.Tyr395His
ENST00000382580.6:c.1399T>C	ENSP00000372023.2:p.Tyr467His
ENST00000402731.5:c.1183T>C	ENSP00000384835.1:p.Tyr395His
ENST00000403642.5:c.997T>C	ENSP00000384919.1:p.Tyr333His
ENST00000404276.5:c.1270T>C	ENSP00000385747.1:p.Tyr424His
ENST00000405598.5:c.1270T>C	ENSP00000386087.1:p.Tyr424His
ENST00000416671.5:c.*760T>C	ENSP00000402225.1:n.*760T>C
ENST00000417588.5:c.1179T>C	ENSP00000412901.1:n.1179T>C
ENST00000433728.5:c.1208T>C	ENSP00000404400.1:n.1208T>C
ENST00000434810.5:c.491-23T>C
ENST00000448511.5:c.1160T>C	ENSP00000404567.1:n.1160T>C
ENST00000456369.5:c.263+4606T>C
NM_001005735.1:c.1399T>C	NP_001005735.1:p.Tyr467His
NM_001257387.1:c.607T>C	NP_001244316.1:p.Tyr203His
NM_007194.3:c.1270T>C	NP_009125.1:p.Tyr424His
NM_145862.2:c.1183T>C	NP_665861.1:p.Tyr395His
XM_006724114.2:c.790T>C	XP_006724177.1:p.Tyr264His
XM_006724116.2:c.727T>C	XP_006724179.2:p.Tyr243His
XM_011529839.1:c.1429T>C	XP_011528141.1:p.Tyr477His
XM_011529840.1:c.1342T>C	XP_011528142.1:p.Tyr448His
XM_011529841.1:c.1198T>C	XP_011528143.1:p.Tyr400His
XM_011529842.1:c.1099T>C	XP_011528144.1:p.Tyr367His
XM_011529843.1:c.1069T>C	XP_011528145.1:p.Tyr357His
XM_011529845.1:c.607T>C	XP_011528147.1:p.Tyr203His
XR_937805.1:n.1429T>C
NM_001349956.1:c.1069T>C	NP_001336885.1:p.Tyr357His
NM_007194.4:c.1270T>C MANE Select	NP_009125.1:p.Tyr424His
XM_006724114.3:c.823T>C	XP_006724177.2:p.Tyr275His
XM_011529839.2:c.1429T>C	XP_011528141.1:p.Tyr477His
XM_011529840.3:c.1342T>C	XP_011528142.1:p.Tyr448His
XM_011529842.2:c.1099T>C	XP_011528144.1:p.Tyr367His
XM_011529845.2:c.607T>C	XP_011528147.1:p.Tyr203His
XM_017028560.1:c.1393T>C	XP_016884049.1:p.Tyr465His
XM_017028561.2:c.607T>C	XP_016884050.1:p.Tyr203His
XM_024452148.1:c.1300T>C	XP_024307916.1:p.Tyr434His
XM_024452149.1:c.1213T>C	XP_024307917.1:p.Tyr405His
XR_937805.2:n.1440T>C
NM_001005735.2:c.1399T>C	NP_001005735.1:p.Tyr467His
NM_001257387.2:c.607T>C	NP_001244316.1:p.Tyr203His
NM_001349956.2:c.1069T>C	NP_001336885.1:p.Tyr357His