Canonical Allele Identifier: CA891844287

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 576960
• ClinVar RCV Id: RCV000699597
• dbSNP Id: rs1569113653
• MyVariant Identifiers: chr22:g.29091763_29091769dup (hg19) ; chr22:g.28695775_28695781dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695779_28695785dup , CM000684.2:g.28695779_28695785dup	GRCh38
NC_000022.10:g.29091767_29091773dup , CM000684.1:g.29091767_29091773dup	GRCh37
NC_000022.9:g.27421767_27421773dup	NCBI36
NG_008150.1:g.51054_51060dup
NG_008150.2:g.51086_51092dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-539_1009-533dup	ENSP00000518557.1:n.1009-539_1009-533dup
ENST00000402731.6:c.987_993dup	ENSP00000384835.2:p.Val332CysfsTer9
ENST00000404276.6:c.1188_1194dup MANE Select	ENSP00000385747.1:p.Val399CysfsTer9
ENST00000425190.7:c.525_531dup	ENSP00000390244.2:p.Val178CysfsTer9
ENST00000464581.6:c.528_534dup	ENSP00000483777.2:p.Val179CysfsTer9
ENST00000648295.1:n.740_746dup
ENST00000649563.1:c.525_531dup	ENSP00000496928.1:p.Val178CysfsTer9
ENST00000650281.1:c.1188_1194dup	ENSP00000497000.1:p.Val399CysfsTer9
ENST00000328354.10:c.1188_1194dup	ENSP00000329178.6:p.Val399CysfsTer9
ENST00000348295.7:c.1101_1107dup	ENSP00000329012.5:p.Val370CysfsTer9
ENST00000382580.6:c.1317_1323dup	ENSP00000372023.2:p.Val442CysfsTer9
ENST00000402731.5:c.1101_1107dup	ENSP00000384835.1:p.Val370CysfsTer9
ENST00000403642.5:c.915_921dup	ENSP00000384919.1:p.Val308CysfsTer9
ENST00000404276.5:c.1188_1194dup	ENSP00000385747.1:p.Val399CysfsTer9
ENST00000405598.5:c.1188_1194dup	ENSP00000386087.1:p.Val399CysfsTer9
ENST00000416671.5:c.*678_*684dup	ENSP00000402225.1:n.*678_*684dup
ENST00000417588.5:c.1097_1103dup	ENSP00000412901.1:n.1097_1103dup
ENST00000433728.5:c.1126_1132dup	ENSP00000404400.1:n.1126_1132dup
ENST00000434810.5:c.419_425dup
ENST00000448511.5:c.1078_1084dup	ENSP00000404567.1:n.1078_1084dup
ENST00000456369.5:c.263+4057_263+4063dup
NM_001005735.1:c.1317_1323dup	NP_001005735.1:p.Val442CysfsTer9
NM_001257387.1:c.525_531dup	NP_001244316.1:p.Val178CysfsTer9
NM_007194.3:c.1188_1194dup	NP_009125.1:p.Val399CysfsTer9
NM_145862.2:c.1101_1107dup	NP_665861.1:p.Val370CysfsTer9
XM_006724114.2:c.708_714dup	XP_006724177.1:p.Val239CysfsTer9
XM_006724116.2:c.645_651dup	XP_006724179.2:p.Val218CysfsTer9
XM_011529839.1:c.1347_1353dup	XP_011528141.1:p.Val452CysfsTer9
XM_011529840.1:c.1260_1266dup	XP_011528142.1:p.Val423CysfsTer9
XM_011529841.1:c.1116_1122dup	XP_011528143.1:p.Val375CysfsTer9
XM_011529842.1:c.1017_1023dup	XP_011528144.1:p.Val342CysfsTer9
XM_011529843.1:c.987_993dup	XP_011528145.1:p.Val332CysfsTer9
XM_011529845.1:c.525_531dup	XP_011528147.1:p.Val178CysfsTer9
XR_937805.1:n.1347_1353dup
NM_001349956.1:c.987_993dup	NP_001336885.1:p.Val332CysfsTer9
NM_007194.4:c.1188_1194dup MANE Select	NP_009125.1:p.Val399CysfsTer9
XM_006724114.3:c.741_747dup	XP_006724177.2:p.Val250CysfsTer9
XM_011529839.2:c.1347_1353dup	XP_011528141.1:p.Val452CysfsTer9
XM_011529840.3:c.1260_1266dup	XP_011528142.1:p.Val423CysfsTer9
XM_011529842.2:c.1017_1023dup	XP_011528144.1:p.Val342CysfsTer9
XM_011529845.2:c.525_531dup	XP_011528147.1:p.Val178CysfsTer9
XM_017028560.1:c.1311_1317dup	XP_016884049.1:p.Val440CysfsTer9
XM_017028561.2:c.525_531dup	XP_016884050.1:p.Val178CysfsTer9
XM_024452148.1:c.1218_1224dup	XP_024307916.1:p.Val409CysfsTer9
XM_024452149.1:c.1131_1137dup	XP_024307917.1:p.Val380CysfsTer9
XR_937805.2:n.1358_1364dup
NM_001005735.2:c.1317_1323dup	NP_001005735.1:p.Val442CysfsTer9
NM_001257387.2:c.525_531dup	NP_001244316.1:p.Val178CysfsTer9
NM_001349956.2:c.987_993dup	NP_001336885.1:p.Val332CysfsTer9