Canonical Allele Identifier: CA916083795

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 834705
• ClinVar RCV Id: RCV001035444
• dbSNP Id: rs2052554226

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695759_28695760insAA , CM000684.2:g.28695759_28695760insAA	GRCh38
NC_000022.10:g.29091747_29091748insAA , CM000684.1:g.29091747_29091748insAA	GRCh37
NC_000022.9:g.27421747_27421748insAA	NCBI36
NG_008150.1:g.51076_51077insTT
NG_008150.2:g.51108_51109insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-517_1009-516insTT	ENSP00000518557.1:n.1009-517_1009-516insT...
ENST00000402731.6:c.1009_1010insTT	ENSP00000384835.2:p.Tyr337PhefsTer11
ENST00000404276.6:c.1210_1211insTT MANE Select	ENSP00000385747.1:p.Tyr404PhefsTer11
ENST00000425190.7:c.547_548insTT	ENSP00000390244.2:p.Tyr183PhefsTer11
ENST00000464581.6:c.550_551insTT	ENSP00000483777.2:p.Tyr184PhefsTer11
ENST00000648295.1:n.762_763insTT
ENST00000649563.1:c.547_548insTT	ENSP00000496928.1:p.Tyr183PhefsTer11
ENST00000650281.1:c.1210_1211insTT	ENSP00000497000.1:p.Tyr404PhefsTer11
ENST00000328354.10:c.1210_1211insTT	ENSP00000329178.6:p.Tyr404PhefsTer11
ENST00000348295.7:c.1123_1124insTT	ENSP00000329012.5:p.Tyr375PhefsTer11
ENST00000382580.6:c.1339_1340insTT	ENSP00000372023.2:p.Tyr447PhefsTer11
ENST00000402731.5:c.1123_1124insTT	ENSP00000384835.1:p.Tyr375PhefsTer11
ENST00000403642.5:c.937_938insTT	ENSP00000384919.1:p.Tyr313PhefsTer11
ENST00000404276.5:c.1210_1211insTT	ENSP00000385747.1:p.Tyr404PhefsTer11
ENST00000405598.5:c.1210_1211insTT	ENSP00000386087.1:p.Tyr404PhefsTer11
ENST00000416671.5:c.*700_*701insTT	ENSP00000402225.1:n.*700_*701insTT
ENST00000417588.5:c.1119_1120insTT	ENSP00000412901.1:n.1119_1120insTT
ENST00000433728.5:c.1148_1149insTT	ENSP00000404400.1:n.1148_1149insTT
ENST00000434810.5:c.441_442insTT
ENST00000448511.5:c.1100_1101insTT	ENSP00000404567.1:n.1100_1101insTT
ENST00000456369.5:c.263+4079_263+4080insTT
NM_001005735.1:c.1339_1340insTT	NP_001005735.1:p.Tyr447PhefsTer11
NM_001257387.1:c.547_548insTT	NP_001244316.1:p.Tyr183PhefsTer11
NM_007194.3:c.1210_1211insTT	NP_009125.1:p.Tyr404PhefsTer11
NM_145862.2:c.1123_1124insTT	NP_665861.1:p.Tyr375PhefsTer11
XM_006724114.2:c.730_731insTT	XP_006724177.1:p.Tyr244PhefsTer11
XM_006724116.2:c.667_668insTT	XP_006724179.2:p.Tyr223PhefsTer11
XM_011529839.1:c.1369_1370insTT	XP_011528141.1:p.Tyr457PhefsTer11
XM_011529840.1:c.1282_1283insTT	XP_011528142.1:p.Tyr428PhefsTer11
XM_011529841.1:c.1138_1139insTT	XP_011528143.1:p.Tyr380PhefsTer11
XM_011529842.1:c.1039_1040insTT	XP_011528144.1:p.Tyr347PhefsTer11
XM_011529843.1:c.1009_1010insTT	XP_011528145.1:p.Tyr337PhefsTer11
XM_011529845.1:c.547_548insTT	XP_011528147.1:p.Tyr183PhefsTer11
XR_937805.1:n.1369_1370insTT
NM_001349956.1:c.1009_1010insTT	NP_001336885.1:p.Tyr337PhefsTer11
NM_007194.4:c.1210_1211insTT MANE Select	NP_009125.1:p.Tyr404PhefsTer11
XM_006724114.3:c.763_764insTT	XP_006724177.2:p.Tyr255PhefsTer11
XM_011529839.2:c.1369_1370insTT	XP_011528141.1:p.Tyr457PhefsTer11
XM_011529840.3:c.1282_1283insTT	XP_011528142.1:p.Tyr428PhefsTer11
XM_011529842.2:c.1039_1040insTT	XP_011528144.1:p.Tyr347PhefsTer11
XM_011529845.2:c.547_548insTT	XP_011528147.1:p.Tyr183PhefsTer11
XM_017028560.1:c.1333_1334insTT	XP_016884049.1:p.Tyr445PhefsTer11
XM_017028561.2:c.547_548insTT	XP_016884050.1:p.Tyr183PhefsTer11
XM_024452148.1:c.1240_1241insTT	XP_024307916.1:p.Tyr414PhefsTer11
XM_024452149.1:c.1153_1154insTT	XP_024307917.1:p.Tyr385PhefsTer11
XR_937805.2:n.1380_1381insTT
NM_001005735.2:c.1339_1340insTT	NP_001005735.1:p.Tyr447PhefsTer11
NM_001257387.2:c.547_548insTT	NP_001244316.1:p.Tyr183PhefsTer11
NM_001349956.2:c.1009_1010insTT	NP_001336885.1:p.Tyr337PhefsTer11