Canonical Allele Identifier: CA10577630

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 231879
• ClinVar RCV Id: RCV000220927 ; RCV000223426 ; RCV000635814 ; RCV003897496
• dbSNP Id: rs876659422
• MyVariant Identifiers: chr22:g.29090053_29090064del (hg19) ; chr22:g.28694065_28694076del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694066_28694077del , CM000684.2:g.28694066_28694077del	GRCh38
NC_000022.10:g.29090054_29090065del , CM000684.1:g.29090054_29090065del	GRCh37
NC_000022.9:g.27420054_27420065del	NCBI36
NG_008150.1:g.52759_52770del
NG_008150.2:g.52791_52802del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*152_*163del	ENSP00000518557.1:n.*152_*163del
ENST00000402731.6:c.1216_1227del	ENSP00000384835.2:p.Ala406_Thr409del
ENST00000404276.6:c.1417_1428del MANE Select	ENSP00000385747.1:p.Ala473_Thr476del
ENST00000425190.7:c.754_765del	ENSP00000390244.2:p.Ala252_Thr255del
ENST00000464581.6:c.757_768del	ENSP00000483777.2:p.Ala253_Thr256del
ENST00000648295.1:n.969_980del
ENST00000649563.1:c.754_765del	ENSP00000496928.1:p.Ala252_Thr255del
ENST00000650281.1:c.1417_1428del	ENSP00000497000.1:p.Ala473_Thr476del
ENST00000328354.10:c.1417_1428del	ENSP00000329178.6:p.Ala473_Thr476del
ENST00000348295.7:c.1330_1341del	ENSP00000329012.5:p.Ala444_Thr447del
ENST00000382580.6:c.1546_1557del	ENSP00000372023.2:p.Ala516_Thr519del
ENST00000402731.5:c.1330_1341del	ENSP00000384835.1:p.Ala444_Thr447del
ENST00000403642.5:c.1144_1155del	ENSP00000384919.1:p.Ala382_Thr385del
ENST00000404276.5:c.1417_1428del	ENSP00000385747.1:p.Ala473_Thr476del
ENST00000405598.5:c.1417_1428del	ENSP00000386087.1:p.Ala473_Thr476del
ENST00000416671.5:c.*907_*918del	ENSP00000402225.1:n.*907_*918del
ENST00000417588.5:c.1326_1337del	ENSP00000412901.1:n.1326_1337del
ENST00000433728.5:c.1355_1366del	ENSP00000404400.1:n.1355_1366del
ENST00000434810.5:c.615_626del
ENST00000448511.5:c.1307_1318del	ENSP00000404567.1:n.1307_1318del
ENST00000456369.5:c.264-4861_264-4850del
NM_001005735.1:c.1546_1557del	NP_001005735.1:p.Ala516_Thr519del
NM_001257387.1:c.754_765del	NP_001244316.1:p.Ala252_Thr255del
NM_007194.3:c.1417_1428del	NP_009125.1:p.Ala473_Thr476del
NM_145862.2:c.1330_1341del	NP_665861.1:p.Ala444_Thr447del
XM_006724114.2:c.937_948del	XP_006724177.1:p.Ala313_Thr316del
XM_006724116.2:c.874_885del	XP_006724179.2:p.Ala292_Thr295del
XM_011529839.1:c.1576_1587del	XP_011528141.1:p.Ala526_Thr529del
XM_011529840.1:c.1489_1500del	XP_011528142.1:p.Ala497_Thr500del
XM_011529841.1:c.1345_1356del	XP_011528143.1:p.Ala449_Thr452del
XM_011529842.1:c.1246_1257del	XP_011528144.1:p.Ala416_Thr419del
XM_011529843.1:c.1216_1227del	XP_011528145.1:p.Ala406_Thr409del
XM_011529845.1:c.754_765del	XP_011528147.1:p.Ala252_Thr255del
XR_937805.1:n.1576_1587del
NM_001349956.1:c.1216_1227del	NP_001336885.1:p.Ala406_Thr409del
NM_007194.4:c.1417_1428del MANE Select	NP_009125.1:p.Ala473_Thr476del
XM_006724114.3:c.970_981del	XP_006724177.2:p.Ala324_Thr327del
XM_011529839.2:c.1576_1587del	XP_011528141.1:p.Ala526_Thr529del
XM_011529840.3:c.1489_1500del	XP_011528142.1:p.Ala497_Thr500del
XM_011529842.2:c.1246_1257del	XP_011528144.1:p.Ala416_Thr419del
XM_011529845.2:c.754_765del	XP_011528147.1:p.Ala252_Thr255del
XM_017028560.1:c.1540_1551del	XP_016884049.1:p.Ala514_Thr517del
XM_017028561.2:c.754_765del	XP_016884050.1:p.Ala252_Thr255del
XM_024452148.1:c.1447_1458del	XP_024307916.1:p.Ala483_Thr486del
XM_024452149.1:c.1360_1371del	XP_024307917.1:p.Ala454_Thr457del
XR_937805.2:n.1587_1598del
NM_001005735.2:c.1546_1557del	NP_001005735.1:p.Ala516_Thr519del
NM_001257387.2:c.754_765del	NP_001244316.1:p.Ala252_Thr255del
NM_001349956.2:c.1216_1227del	NP_001336885.1:p.Ala406_Thr409del