Canonical Allele Identifier: CA195139

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 186548
• ClinVar RCV Id: RCV000166159
• dbSNP Id: rs786203031
• MyVariant Identifiers: chr22:g.29091720_29091735del (hg19) ; chr22:g.28695732_28695747del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695733_28695748del , CM000684.2:g.28695733_28695748del	GRCh38
NC_000022.10:g.29091721_29091736del , CM000684.1:g.29091721_29091736del	GRCh37
NC_000022.9:g.27421721_27421736del	NCBI36
NG_008150.1:g.51088_51103del
NG_008150.2:g.51120_51135del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-505_1009-490del	ENSP00000518557.1:n.1009-505_1009-490del
ENST00000402731.6:c.1021_1036del	ENSP00000384835.2:p.Val341Ter
ENST00000404276.6:c.1222_1237del MANE Select	ENSP00000385747.1:p.Val408Ter
ENST00000425190.7:c.559_574del	ENSP00000390244.2:p.Val187Ter
ENST00000464581.6:c.562_577del	ENSP00000483777.2:p.Val188Ter
ENST00000648295.1:n.774_789del
ENST00000649563.1:c.559_574del	ENSP00000496928.1:p.Val187Ter
ENST00000650281.1:c.1222_1237del	ENSP00000497000.1:p.Val408Ter
ENST00000328354.10:c.1222_1237del	ENSP00000329178.6:p.Val408Ter
ENST00000348295.7:c.1135_1150del	ENSP00000329012.5:p.Val379Ter
ENST00000382580.6:c.1351_1366del	ENSP00000372023.2:p.Val451Ter
ENST00000402731.5:c.1135_1150del	ENSP00000384835.1:p.Val379Ter
ENST00000403642.5:c.949_964del	ENSP00000384919.1:p.Val317Ter
ENST00000404276.5:c.1222_1237del	ENSP00000385747.1:p.Val408Ter
ENST00000405598.5:c.1222_1237del	ENSP00000386087.1:p.Val408Ter
ENST00000416671.5:c.*712_*727del	ENSP00000402225.1:n.*712_*727del
ENST00000417588.5:c.1131_1146del	ENSP00000412901.1:n.1131_1146del
ENST00000433728.5:c.1160_1175del	ENSP00000404400.1:n.1160_1175del
ENST00000434810.5:c.453_468del
ENST00000448511.5:c.1112_1127del	ENSP00000404567.1:n.1112_1127del
ENST00000456369.5:c.263+4091_263+4106del
NM_001005735.1:c.1351_1366del	NP_001005735.1:p.Val451Ter
NM_001257387.1:c.559_574del	NP_001244316.1:p.Val187Ter
NM_007194.3:c.1222_1237del	NP_009125.1:p.Val408Ter
NM_145862.2:c.1135_1150del	NP_665861.1:p.Val379Ter
XM_006724114.2:c.742_757del	XP_006724177.1:p.Val248Ter
XM_006724116.2:c.679_694del	XP_006724179.2:p.Val227Ter
XM_011529839.1:c.1381_1396del	XP_011528141.1:p.Val461Ter
XM_011529840.1:c.1294_1309del	XP_011528142.1:p.Val432Ter
XM_011529841.1:c.1150_1165del	XP_011528143.1:p.Val384Ter
XM_011529842.1:c.1051_1066del	XP_011528144.1:p.Val351Ter
XM_011529843.1:c.1021_1036del	XP_011528145.1:p.Val341Ter
XM_011529845.1:c.559_574del	XP_011528147.1:p.Val187Ter
XR_937805.1:n.1381_1396del
NM_001349956.1:c.1021_1036del	NP_001336885.1:p.Val341Ter
NM_007194.4:c.1222_1237del MANE Select	NP_009125.1:p.Val408Ter
XM_006724114.3:c.775_790del	XP_006724177.2:p.Val259Ter
XM_011529839.2:c.1381_1396del	XP_011528141.1:p.Val461Ter
XM_011529840.3:c.1294_1309del	XP_011528142.1:p.Val432Ter
XM_011529842.2:c.1051_1066del	XP_011528144.1:p.Val351Ter
XM_011529845.2:c.559_574del	XP_011528147.1:p.Val187Ter
XM_017028560.1:c.1345_1360del	XP_016884049.1:p.Val449Ter
XM_017028561.2:c.559_574del	XP_016884050.1:p.Val187Ter
XM_024452148.1:c.1252_1267del	XP_024307916.1:p.Val418Ter
XM_024452149.1:c.1165_1180del	XP_024307917.1:p.Val389Ter
XR_937805.2:n.1392_1407del
NM_001005735.2:c.1351_1366del	NP_001005735.1:p.Val451Ter
NM_001257387.2:c.559_574del	NP_001244316.1:p.Val187Ter
NM_001349956.2:c.1021_1036del	NP_001336885.1:p.Val341Ter