Canonical Allele Identifier: CA2580099526

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2110720
• ClinVar RCV Id: RCV003020313 ; RCV003367954

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695851_28695867del , CM000684.2:g.28695851_28695867del	GRCh38
NC_000022.10:g.29091839_29091855del , CM000684.1:g.29091839_29091855del	GRCh37
NC_000022.9:g.27421839_27421855del	NCBI36
NG_008150.1:g.50977_50993del
NG_008150.2:g.51009_51025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-616_1009-600del	ENSP00000518557.1:n.1009-616_1009-600del
ENST00000402731.6:c.910_926del	ENSP00000384835.2:p.His304ArgfsTer18
ENST00000404276.6:c.1111_1127del MANE Select	ENSP00000385747.1:p.His371ArgfsTer18
ENST00000425190.7:c.448_464del	ENSP00000390244.2:p.His150ArgfsTer18
ENST00000464581.6:c.451_467del	ENSP00000483777.2:p.His151ArgfsTer18
ENST00000648295.1:n.663_679del
ENST00000649563.1:c.448_464del	ENSP00000496928.1:p.His150ArgfsTer18
ENST00000650281.1:c.1111_1127del	ENSP00000497000.1:p.His371ArgfsTer18
ENST00000328354.10:c.1111_1127del	ENSP00000329178.6:p.His371ArgfsTer18
ENST00000348295.7:c.1024_1040del	ENSP00000329012.5:p.His342ArgfsTer18
ENST00000382580.6:c.1240_1256del	ENSP00000372023.2:p.His414ArgfsTer18
ENST00000402731.5:c.1024_1040del	ENSP00000384835.1:p.His342ArgfsTer18
ENST00000403642.5:c.838_854del	ENSP00000384919.1:p.His280ArgfsTer18
ENST00000404276.5:c.1111_1127del	ENSP00000385747.1:p.His371ArgfsTer18
ENST00000405598.5:c.1111_1127del	ENSP00000386087.1:p.His371ArgfsTer18
ENST00000416671.5:c.*601_*617del	ENSP00000402225.1:n.*601_*617del
ENST00000417588.5:c.1020_1036del	ENSP00000412901.1:n.1020_1036del
ENST00000433728.5:c.1049_1065del	ENSP00000404400.1:n.1049_1065del
ENST00000434810.5:c.342_358del
ENST00000448511.5:c.1001_1017del	ENSP00000404567.1:n.1001_1017del
ENST00000456369.5:c.263+3980_263+3996del
NM_001005735.1:c.1240_1256del	NP_001005735.1:p.His414ArgfsTer18
NM_001257387.1:c.448_464del	NP_001244316.1:p.His150ArgfsTer18
NM_007194.3:c.1111_1127del	NP_009125.1:p.His371ArgfsTer18
NM_145862.2:c.1024_1040del	NP_665861.1:p.His342ArgfsTer18
XM_006724114.2:c.631_647del	XP_006724177.1:p.His211ArgfsTer18
XM_006724116.2:c.568_584del	XP_006724179.2:p.His190ArgfsTer18
XM_011529839.1:c.1270_1286del	XP_011528141.1:p.His424ArgfsTer18
XM_011529840.1:c.1183_1199del	XP_011528142.1:p.His395ArgfsTer18
XM_011529841.1:c.1039_1055del	XP_011528143.1:p.His347ArgfsTer18
XM_011529842.1:c.940_956del	XP_011528144.1:p.His314ArgfsTer18
XM_011529843.1:c.910_926del	XP_011528145.1:p.His304ArgfsTer18
XM_011529845.1:c.448_464del	XP_011528147.1:p.His150ArgfsTer18
XR_937805.1:n.1270_1286del
XR_937806.1:n.1178_1194del
NM_001349956.1:c.910_926del	NP_001336885.1:p.His304ArgfsTer18
NM_007194.4:c.1111_1127del MANE Select	NP_009125.1:p.His371ArgfsTer18
XM_006724114.3:c.664_680del	XP_006724177.2:p.His222ArgfsTer18
XM_011529839.2:c.1270_1286del	XP_011528141.1:p.His424ArgfsTer18
XM_011529840.3:c.1183_1199del	XP_011528142.1:p.His395ArgfsTer18
XM_011529842.2:c.940_956del	XP_011528144.1:p.His314ArgfsTer18
XM_011529845.2:c.448_464del	XP_011528147.1:p.His150ArgfsTer18
XM_017028560.1:c.1234_1250del	XP_016884049.1:p.His412ArgfsTer18
XM_017028561.2:c.448_464del	XP_016884050.1:p.His150ArgfsTer18
XM_024452148.1:c.1141_1157del	XP_024307916.1:p.His381ArgfsTer18
XM_024452149.1:c.1054_1070del	XP_024307917.1:p.His352ArgfsTer18
XR_937805.2:n.1281_1297del
XR_937806.2:n.1194_1210del
NM_001005735.2:c.1240_1256del	NP_001005735.1:p.His414ArgfsTer18
NM_001257387.2:c.448_464del	NP_001244316.1:p.His150ArgfsTer18
NM_001349956.2:c.910_926del	NP_001336885.1:p.His304ArgfsTer18