Canonical Allele Identifier: CA411097205

Gene: CHEK2

Linked Data

• dbSNP Id: rs2145807195
• MyVariant Identifiers: chr22:g.29091858T>A (hg19) ; chr22:g.28695870T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695870T>A , CM000684.2:g.28695870T>A	GRCh38
NC_000022.10:g.29091858T>A , CM000684.1:g.29091858T>A	GRCh37
NC_000022.9:g.27421858T>A	NCBI36
NG_008150.1:g.50965A>T
NG_008150.2:g.50997A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-628A>T	ENSP00000518557.1:n.1009-628A>T
ENST00000402731.6:c.898A>T	ENSP00000384835.2:p.Thr300Ser
ENST00000404276.6:c.1099A>T MANE Select	ENSP00000385747.1:p.Thr367Ser
ENST00000425190.7:c.436A>T	ENSP00000390244.2:p.Thr146Ser
ENST00000464581.6:c.439A>T	ENSP00000483777.2:p.Thr147Ser
ENST00000648295.1:n.651A>T
ENST00000649563.1:c.436A>T	ENSP00000496928.1:p.Thr146Ser
ENST00000650281.1:c.1099A>T	ENSP00000497000.1:p.Thr367Ser
ENST00000328354.10:c.1099A>T	ENSP00000329178.6:p.Thr367Ser
ENST00000348295.7:c.1012A>T	ENSP00000329012.5:p.Thr338Ser
ENST00000382580.6:c.1228A>T	ENSP00000372023.2:p.Thr410Ser
ENST00000402731.5:c.1012A>T	ENSP00000384835.1:p.Thr338Ser
ENST00000403642.5:c.826A>T	ENSP00000384919.1:p.Thr276Ser
ENST00000404276.5:c.1099A>T	ENSP00000385747.1:p.Thr367Ser
ENST00000405598.5:c.1099A>T	ENSP00000386087.1:p.Thr367Ser
ENST00000416671.5:c.*589A>T	ENSP00000402225.1:n.*589A>T
ENST00000417588.5:c.1008A>T	ENSP00000412901.1:n.1008A>T
ENST00000433728.5:c.1037A>T	ENSP00000404400.1:n.1037A>T
ENST00000434810.5:c.330A>T
ENST00000448511.5:c.989A>T	ENSP00000404567.1:n.989A>T
ENST00000456369.5:c.263+3968A>T
NM_001005735.1:c.1228A>T	NP_001005735.1:p.Thr410Ser
NM_001257387.1:c.436A>T	NP_001244316.1:p.Thr146Ser
NM_007194.3:c.1099A>T	NP_009125.1:p.Thr367Ser
NM_145862.2:c.1012A>T	NP_665861.1:p.Thr338Ser
XM_006724114.2:c.619A>T	XP_006724177.1:p.Thr207Ser
XM_006724116.2:c.556A>T	XP_006724179.2:p.Thr186Ser
XM_011529839.1:c.1258A>T	XP_011528141.1:p.Thr420Ser
XM_011529840.1:c.1171A>T	XP_011528142.1:p.Thr391Ser
XM_011529841.1:c.1027A>T	XP_011528143.1:p.Thr343Ser
XM_011529842.1:c.928A>T	XP_011528144.1:p.Thr310Ser
XM_011529843.1:c.898A>T	XP_011528145.1:p.Thr300Ser
XM_011529845.1:c.436A>T	XP_011528147.1:p.Thr146Ser
XR_937805.1:n.1258A>T
XR_937806.1:n.1166A>T
NM_001349956.1:c.898A>T	NP_001336885.1:p.Thr300Ser
NM_007194.4:c.1099A>T MANE Select	NP_009125.1:p.Thr367Ser
XM_006724114.3:c.652A>T	XP_006724177.2:p.Thr218Ser
XM_011529839.2:c.1258A>T	XP_011528141.1:p.Thr420Ser
XM_011529840.3:c.1171A>T	XP_011528142.1:p.Thr391Ser
XM_011529842.2:c.928A>T	XP_011528144.1:p.Thr310Ser
XM_011529845.2:c.436A>T	XP_011528147.1:p.Thr146Ser
XM_017028560.1:c.1222A>T	XP_016884049.1:p.Thr408Ser
XM_017028561.2:c.436A>T	XP_016884050.1:p.Thr146Ser
XM_024452148.1:c.1129A>T	XP_024307916.1:p.Thr377Ser
XM_024452149.1:c.1042A>T	XP_024307917.1:p.Thr348Ser
XR_937805.2:n.1269A>T
XR_937806.2:n.1182A>T
NM_001005735.2:c.1228A>T	NP_001005735.1:p.Thr410Ser
NM_001257387.2:c.436A>T	NP_001244316.1:p.Thr146Ser
NM_001349956.2:c.898A>T	NP_001336885.1:p.Thr300Ser