Canonical Allele Identifier: CA411096961

Gene: CHEK2

Linked Data

• dbSNP Id: rs2145805648
• MyVariant Identifiers: chr22:g.29091818A>T (hg19) ; chr22:g.28695830A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695830A>T , CM000684.2:g.28695830A>T	GRCh38
NC_000022.10:g.29091818A>T , CM000684.1:g.29091818A>T	GRCh37
NC_000022.9:g.27421818A>T	NCBI36
NG_008150.1:g.51005T>A
NG_008150.2:g.51037T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-588T>A	ENSP00000518557.1:n.1009-588T>A
ENST00000402731.6:c.938T>A	ENSP00000384835.2:p.Leu313His
ENST00000404276.6:c.1139T>A MANE Select	ENSP00000385747.1:p.Leu380His
ENST00000425190.7:c.476T>A	ENSP00000390244.2:p.Leu159His
ENST00000464581.6:c.479T>A	ENSP00000483777.2:p.Leu160His
ENST00000648295.1:n.691T>A
ENST00000649563.1:c.476T>A	ENSP00000496928.1:p.Leu159His
ENST00000650281.1:c.1139T>A	ENSP00000497000.1:p.Leu380His
ENST00000328354.10:c.1139T>A	ENSP00000329178.6:p.Leu380His
ENST00000348295.7:c.1052T>A	ENSP00000329012.5:p.Leu351His
ENST00000382580.6:c.1268T>A	ENSP00000372023.2:p.Leu423His
ENST00000402731.5:c.1052T>A	ENSP00000384835.1:p.Leu351His
ENST00000403642.5:c.866T>A	ENSP00000384919.1:p.Leu289His
ENST00000404276.5:c.1139T>A	ENSP00000385747.1:p.Leu380His
ENST00000405598.5:c.1139T>A	ENSP00000386087.1:p.Leu380His
ENST00000416671.5:c.*629T>A	ENSP00000402225.1:n.*629T>A
ENST00000417588.5:c.1048T>A	ENSP00000412901.1:n.1048T>A
ENST00000433728.5:c.1077T>A	ENSP00000404400.1:n.1077T>A
ENST00000434810.5:c.370T>A
ENST00000448511.5:c.1029T>A	ENSP00000404567.1:n.1029T>A
ENST00000456369.5:c.263+4008T>A
NM_001005735.1:c.1268T>A	NP_001005735.1:p.Leu423His
NM_001257387.1:c.476T>A	NP_001244316.1:p.Leu159His
NM_007194.3:c.1139T>A	NP_009125.1:p.Leu380His
NM_145862.2:c.1052T>A	NP_665861.1:p.Leu351His
XM_006724114.2:c.659T>A	XP_006724177.1:p.Leu220His
XM_006724116.2:c.596T>A	XP_006724179.2:p.Leu199His
XM_011529839.1:c.1298T>A	XP_011528141.1:p.Leu433His
XM_011529840.1:c.1211T>A	XP_011528142.1:p.Leu404His
XM_011529841.1:c.1067T>A	XP_011528143.1:p.Leu356His
XM_011529842.1:c.968T>A	XP_011528144.1:p.Leu323His
XM_011529843.1:c.938T>A	XP_011528145.1:p.Leu313His
XM_011529845.1:c.476T>A	XP_011528147.1:p.Leu159His
XR_937805.1:n.1298T>A
XR_937806.1:n.1206T>A
NM_001349956.1:c.938T>A	NP_001336885.1:p.Leu313His
NM_007194.4:c.1139T>A MANE Select	NP_009125.1:p.Leu380His
XM_006724114.3:c.692T>A	XP_006724177.2:p.Leu231His
XM_011529839.2:c.1298T>A	XP_011528141.1:p.Leu433His
XM_011529840.3:c.1211T>A	XP_011528142.1:p.Leu404His
XM_011529842.2:c.968T>A	XP_011528144.1:p.Leu323His
XM_011529845.2:c.476T>A	XP_011528147.1:p.Leu159His
XM_017028560.1:c.1262T>A	XP_016884049.1:p.Leu421His
XM_017028561.2:c.476T>A	XP_016884050.1:p.Leu159His
XM_024452148.1:c.1169T>A	XP_024307916.1:p.Leu390His
XM_024452149.1:c.1082T>A	XP_024307917.1:p.Leu361His
XR_937805.2:n.1309T>A
XR_937806.2:n.1222T>A
NM_001005735.2:c.1268T>A	NP_001005735.1:p.Leu423His
NM_001257387.2:c.476T>A	NP_001244316.1:p.Leu159His
NM_001349956.2:c.938T>A	NP_001336885.1:p.Leu313His