Canonical Allele Identifier: CA411094319

Gene: CHEK2

Linked Data

• dbSNP Id: rs1064793511
• MyVariant Identifiers: chr22:g.29090066T>A (hg19) ; chr22:g.28694078T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694078T>A , CM000684.2:g.28694078T>A	GRCh38
NC_000022.10:g.29090066T>A , CM000684.1:g.29090066T>A	GRCh37
NC_000022.9:g.27420066T>A	NCBI36
NG_008150.1:g.52757A>T
NG_008150.2:g.52789A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*150A>T	ENSP00000518557.1:n.*150A>T
ENST00000402731.6:c.1214A>T	ENSP00000384835.2:p.Lys405Met
ENST00000404276.6:c.1415A>T MANE Select	ENSP00000385747.1:p.Lys472Met
ENST00000425190.7:c.752A>T	ENSP00000390244.2:p.Lys251Met
ENST00000464581.6:c.755A>T	ENSP00000483777.2:p.Lys252Met
ENST00000648295.1:n.967A>T
ENST00000649563.1:c.752A>T	ENSP00000496928.1:p.Lys251Met
ENST00000650281.1:c.1415A>T	ENSP00000497000.1:p.Lys472Met
ENST00000328354.10:c.1415A>T	ENSP00000329178.6:p.Lys472Met
ENST00000348295.7:c.1328A>T	ENSP00000329012.5:p.Lys443Met
ENST00000382580.6:c.1544A>T	ENSP00000372023.2:p.Lys515Met
ENST00000402731.5:c.1328A>T	ENSP00000384835.1:p.Lys443Met
ENST00000403642.5:c.1142A>T	ENSP00000384919.1:p.Lys381Met
ENST00000404276.5:c.1415A>T	ENSP00000385747.1:p.Lys472Met
ENST00000405598.5:c.1415A>T	ENSP00000386087.1:p.Lys472Met
ENST00000416671.5:c.*905A>T	ENSP00000402225.1:n.*905A>T
ENST00000417588.5:c.1324A>T	ENSP00000412901.1:n.1324A>T
ENST00000433728.5:c.1353A>T	ENSP00000404400.1:n.1353A>T
ENST00000434810.5:c.613A>T
ENST00000448511.5:c.1305A>T	ENSP00000404567.1:n.1305A>T
ENST00000456369.5:c.264-4863A>T
NM_001005735.1:c.1544A>T	NP_001005735.1:p.Lys515Met
NM_001257387.1:c.752A>T	NP_001244316.1:p.Lys251Met
NM_007194.3:c.1415A>T	NP_009125.1:p.Lys472Met
NM_145862.2:c.1328A>T	NP_665861.1:p.Lys443Met
XM_006724114.2:c.935A>T	XP_006724177.1:p.Lys312Met
XM_006724116.2:c.872A>T	XP_006724179.2:p.Lys291Met
XM_011529839.1:c.1574A>T	XP_011528141.1:p.Lys525Met
XM_011529840.1:c.1487A>T	XP_011528142.1:p.Lys496Met
XM_011529841.1:c.1343A>T	XP_011528143.1:p.Lys448Met
XM_011529842.1:c.1244A>T	XP_011528144.1:p.Lys415Met
XM_011529843.1:c.1214A>T	XP_011528145.1:p.Lys405Met
XM_011529845.1:c.752A>T	XP_011528147.1:p.Lys251Met
XR_937805.1:n.1574A>T
NM_001349956.1:c.1214A>T	NP_001336885.1:p.Lys405Met
NM_007194.4:c.1415A>T MANE Select	NP_009125.1:p.Lys472Met
XM_006724114.3:c.968A>T	XP_006724177.2:p.Lys323Met
XM_011529839.2:c.1574A>T	XP_011528141.1:p.Lys525Met
XM_011529840.3:c.1487A>T	XP_011528142.1:p.Lys496Met
XM_011529842.2:c.1244A>T	XP_011528144.1:p.Lys415Met
XM_011529845.2:c.752A>T	XP_011528147.1:p.Lys251Met
XM_017028560.1:c.1538A>T	XP_016884049.1:p.Lys513Met
XM_017028561.2:c.752A>T	XP_016884050.1:p.Lys251Met
XM_024452148.1:c.1445A>T	XP_024307916.1:p.Lys482Met
XM_024452149.1:c.1358A>T	XP_024307917.1:p.Lys453Met
XR_937805.2:n.1585A>T
NM_001005735.2:c.1544A>T	NP_001005735.1:p.Lys515Met
NM_001257387.2:c.752A>T	NP_001244316.1:p.Lys251Met
NM_001349956.2:c.1214A>T	NP_001336885.1:p.Lys405Met