Canonical Allele Identifier: CA411096972

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29091821G>T (hg19) ; chr22:g.28695833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695833G>T , CM000684.2:g.28695833G>T	GRCh38
NC_000022.10:g.29091821G>T , CM000684.1:g.29091821G>T	GRCh37
NC_000022.9:g.27421821G>T	NCBI36
NG_008150.1:g.51002C>A
NG_008150.2:g.51034C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-591C>A	ENSP00000518557.1:n.1009-591C>A
ENST00000402731.6:c.935C>A	ENSP00000384835.2:p.Ser312Tyr
ENST00000404276.6:c.1136C>A MANE Select	ENSP00000385747.1:p.Ser379Tyr
ENST00000425190.7:c.473C>A	ENSP00000390244.2:p.Ser158Tyr
ENST00000464581.6:c.476C>A	ENSP00000483777.2:p.Ser159Tyr
ENST00000648295.1:n.688C>A
ENST00000649563.1:c.473C>A	ENSP00000496928.1:p.Ser158Tyr
ENST00000650281.1:c.1136C>A	ENSP00000497000.1:p.Ser379Tyr
ENST00000328354.10:c.1136C>A	ENSP00000329178.6:p.Ser379Tyr
ENST00000348295.7:c.1049C>A	ENSP00000329012.5:p.Ser350Tyr
ENST00000382580.6:c.1265C>A	ENSP00000372023.2:p.Ser422Tyr
ENST00000402731.5:c.1049C>A	ENSP00000384835.1:p.Ser350Tyr
ENST00000403642.5:c.863C>A	ENSP00000384919.1:p.Ser288Tyr
ENST00000404276.5:c.1136C>A	ENSP00000385747.1:p.Ser379Tyr
ENST00000405598.5:c.1136C>A	ENSP00000386087.1:p.Ser379Tyr
ENST00000416671.5:c.*626C>A	ENSP00000402225.1:n.*626C>A
ENST00000417588.5:c.1045C>A	ENSP00000412901.1:n.1045C>A
ENST00000433728.5:c.1074C>A	ENSP00000404400.1:n.1074C>A
ENST00000434810.5:c.367C>A
ENST00000448511.5:c.1026C>A	ENSP00000404567.1:n.1026C>A
ENST00000456369.5:c.263+4005C>A
NM_001005735.1:c.1265C>A	NP_001005735.1:p.Ser422Tyr
NM_001257387.1:c.473C>A	NP_001244316.1:p.Ser158Tyr
NM_007194.3:c.1136C>A	NP_009125.1:p.Ser379Tyr
NM_145862.2:c.1049C>A	NP_665861.1:p.Ser350Tyr
XM_006724114.2:c.656C>A	XP_006724177.1:p.Ser219Tyr
XM_006724116.2:c.593C>A	XP_006724179.2:p.Ser198Tyr
XM_011529839.1:c.1295C>A	XP_011528141.1:p.Ser432Tyr
XM_011529840.1:c.1208C>A	XP_011528142.1:p.Ser403Tyr
XM_011529841.1:c.1064C>A	XP_011528143.1:p.Ser355Tyr
XM_011529842.1:c.965C>A	XP_011528144.1:p.Ser322Tyr
XM_011529843.1:c.935C>A	XP_011528145.1:p.Ser312Tyr
XM_011529845.1:c.473C>A	XP_011528147.1:p.Ser158Tyr
XR_937805.1:n.1295C>A
XR_937806.1:n.1203C>A
NM_001349956.1:c.935C>A	NP_001336885.1:p.Ser312Tyr
NM_007194.4:c.1136C>A MANE Select	NP_009125.1:p.Ser379Tyr
XM_006724114.3:c.689C>A	XP_006724177.2:p.Ser230Tyr
XM_011529839.2:c.1295C>A	XP_011528141.1:p.Ser432Tyr
XM_011529840.3:c.1208C>A	XP_011528142.1:p.Ser403Tyr
XM_011529842.2:c.965C>A	XP_011528144.1:p.Ser322Tyr
XM_011529845.2:c.473C>A	XP_011528147.1:p.Ser158Tyr
XM_017028560.1:c.1259C>A	XP_016884049.1:p.Ser420Tyr
XM_017028561.2:c.473C>A	XP_016884050.1:p.Ser158Tyr
XM_024452148.1:c.1166C>A	XP_024307916.1:p.Ser389Tyr
XM_024452149.1:c.1079C>A	XP_024307917.1:p.Ser360Tyr
XR_937805.2:n.1306C>A
XR_937806.2:n.1219C>A
NM_001005735.2:c.1265C>A	NP_001005735.1:p.Ser422Tyr
NM_001257387.2:c.473C>A	NP_001244316.1:p.Ser158Tyr
NM_001349956.2:c.935C>A	NP_001336885.1:p.Ser312Tyr