Canonical Allele Identifier: CA411096848

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 818460
• ClinVar RCV Id: RCV001010063
• dbSNP Id: rs1601722891
• MyVariant Identifiers: chr22:g.29091794G>A (hg19) ; chr22:g.28695806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695806G>A , CM000684.2:g.28695806G>A	GRCh38
NC_000022.10:g.29091794G>A , CM000684.1:g.29091794G>A	GRCh37
NC_000022.9:g.27421794G>A	NCBI36
NG_008150.1:g.51029C>T
NG_008150.2:g.51061C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-564C>T	ENSP00000518557.1:n.1009-564C>T
ENST00000402731.6:c.962C>T	ENSP00000384835.2:p.Pro321Leu
ENST00000404276.6:c.1163C>T MANE Select	ENSP00000385747.1:p.Pro388Leu
ENST00000425190.7:c.500C>T	ENSP00000390244.2:p.Pro167Leu
ENST00000464581.6:c.503C>T	ENSP00000483777.2:p.Pro168Leu
ENST00000648295.1:n.715C>T
ENST00000649563.1:c.500C>T	ENSP00000496928.1:p.Pro167Leu
ENST00000650281.1:c.1163C>T	ENSP00000497000.1:p.Pro388Leu
ENST00000328354.10:c.1163C>T	ENSP00000329178.6:p.Pro388Leu
ENST00000348295.7:c.1076C>T	ENSP00000329012.5:p.Pro359Leu
ENST00000382580.6:c.1292C>T	ENSP00000372023.2:p.Pro431Leu
ENST00000402731.5:c.1076C>T	ENSP00000384835.1:p.Pro359Leu
ENST00000403642.5:c.890C>T	ENSP00000384919.1:p.Pro297Leu
ENST00000404276.5:c.1163C>T	ENSP00000385747.1:p.Pro388Leu
ENST00000405598.5:c.1163C>T	ENSP00000386087.1:p.Pro388Leu
ENST00000416671.5:c.*653C>T	ENSP00000402225.1:n.*653C>T
ENST00000417588.5:c.1072C>T	ENSP00000412901.1:n.1072C>T
ENST00000433728.5:c.1101C>T	ENSP00000404400.1:n.1101C>T
ENST00000434810.5:c.394C>T
ENST00000448511.5:c.1053C>T	ENSP00000404567.1:n.1053C>T
ENST00000456369.5:c.263+4032C>T
NM_001005735.1:c.1292C>T	NP_001005735.1:p.Pro431Leu
NM_001257387.1:c.500C>T	NP_001244316.1:p.Pro167Leu
NM_007194.3:c.1163C>T	NP_009125.1:p.Pro388Leu
NM_145862.2:c.1076C>T	NP_665861.1:p.Pro359Leu
XM_006724114.2:c.683C>T	XP_006724177.1:p.Pro228Leu
XM_006724116.2:c.620C>T	XP_006724179.2:p.Pro207Leu
XM_011529839.1:c.1322C>T	XP_011528141.1:p.Pro441Leu
XM_011529840.1:c.1235C>T	XP_011528142.1:p.Pro412Leu
XM_011529841.1:c.1091C>T	XP_011528143.1:p.Pro364Leu
XM_011529842.1:c.992C>T	XP_011528144.1:p.Pro331Leu
XM_011529843.1:c.962C>T	XP_011528145.1:p.Pro321Leu
XM_011529845.1:c.500C>T	XP_011528147.1:p.Pro167Leu
XR_937805.1:n.1322C>T
XR_937806.1:n.1230C>T
NM_001349956.1:c.962C>T	NP_001336885.1:p.Pro321Leu
NM_007194.4:c.1163C>T MANE Select	NP_009125.1:p.Pro388Leu
XM_006724114.3:c.716C>T	XP_006724177.2:p.Pro239Leu
XM_011529839.2:c.1322C>T	XP_011528141.1:p.Pro441Leu
XM_011529840.3:c.1235C>T	XP_011528142.1:p.Pro412Leu
XM_011529842.2:c.992C>T	XP_011528144.1:p.Pro331Leu
XM_011529845.2:c.500C>T	XP_011528147.1:p.Pro167Leu
XM_017028560.1:c.1286C>T	XP_016884049.1:p.Pro429Leu
XM_017028561.2:c.500C>T	XP_016884050.1:p.Pro167Leu
XM_024452148.1:c.1193C>T	XP_024307916.1:p.Pro398Leu
XM_024452149.1:c.1106C>T	XP_024307917.1:p.Pro369Leu
XR_937805.2:n.1333C>T
XR_937806.2:n.1246C>T
NM_001005735.2:c.1292C>T	NP_001005735.1:p.Pro431Leu
NM_001257387.2:c.500C>T	NP_001244316.1:p.Pro167Leu
NM_001349956.2:c.962C>T	NP_001336885.1:p.Pro321Leu