Canonical Allele Identifier: CA411097454

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29092894T>A (hg19) ; chr22:g.28696906T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696906T>A , CM000684.2:g.28696906T>A	GRCh38
NC_000022.10:g.29092894T>A , CM000684.1:g.29092894T>A	GRCh37
NC_000022.9:g.27422894T>A	NCBI36
NG_008150.1:g.49929A>T
NG_008150.2:g.49961A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-1664A>T	ENSP00000518557.1:n.1009-1664A>T
ENST00000402731.6:c.889A>T	ENSP00000384835.2:p.Ile297Leu
ENST00000404276.6:c.1090A>T MANE Select	ENSP00000385747.1:p.Ile364Leu
ENST00000425190.7:c.427A>T	ENSP00000390244.2:p.Ile143Leu
ENST00000464581.6:c.430A>T	ENSP00000483777.2:p.Ile144Leu
ENST00000648295.1:n.642A>T
ENST00000649563.1:c.427A>T	ENSP00000496928.1:p.Ile143Leu
ENST00000650281.1:c.1090A>T	ENSP00000497000.1:p.Ile364Leu
ENST00000328354.10:c.1090A>T	ENSP00000329178.6:p.Ile364Leu
ENST00000348295.7:c.1009-1033A>T	ENSP00000329012.5:n.1009-1033A>T
ENST00000382580.6:c.1219A>T	ENSP00000372023.2:p.Ile407Leu
ENST00000402731.5:c.1009-1033A>T	ENSP00000384835.1:n.1009-1033A>T
ENST00000403642.5:c.817A>T	ENSP00000384919.1:p.Ile273Leu
ENST00000404276.5:c.1090A>T	ENSP00000385747.1:p.Ile364Leu
ENST00000405598.5:c.1090A>T	ENSP00000386087.1:p.Ile364Leu
ENST00000416671.5:c.*580A>T	ENSP00000402225.1:n.*580A>T
ENST00000417588.5:c.999A>T	ENSP00000412901.1:n.999A>T
ENST00000433028.6:c.*815A>T	ENSP00000403659.1:n.*815A>T
ENST00000433728.5:c.1028A>T	ENSP00000404400.1:n.1028A>T
ENST00000434810.5:c.321A>T
ENST00000447421.5:c.889A>T	ENSP00000397478.2:p.Ile297Leu
ENST00000448511.5:c.980A>T	ENSP00000404567.1:n.980A>T
ENST00000456369.5:c.263+2932A>T
NM_001005735.1:c.1219A>T	NP_001005735.1:p.Ile407Leu
NM_001257387.1:c.427A>T	NP_001244316.1:p.Ile143Leu
NM_007194.3:c.1090A>T	NP_009125.1:p.Ile364Leu
NM_145862.2:c.1009-1033A>T	NP_665861.1:n.1009-1033A>T
XM_006724114.2:c.610A>T	XP_006724177.1:p.Ile204Leu
XM_006724116.2:c.547A>T	XP_006724179.2:p.Ile183Leu
XM_011529839.1:c.1249A>T	XP_011528141.1:p.Ile417Leu
XM_011529840.1:c.1168-1033A>T	XP_011528142.1:n.1168-1033A>T
XM_011529841.1:c.1018A>T	XP_011528143.1:p.Ile340Leu
XM_011529842.1:c.919A>T	XP_011528144.1:p.Ile307Leu
XM_011529843.1:c.889A>T	XP_011528145.1:p.Ile297Leu
XM_011529845.1:c.427A>T	XP_011528147.1:p.Ile143Leu
XR_937805.1:n.1249A>T
XR_937806.1:n.1163-1033A>T
NM_001349956.1:c.889A>T	NP_001336885.1:p.Ile297Leu
NM_007194.4:c.1090A>T MANE Select	NP_009125.1:p.Ile364Leu
XM_006724114.3:c.643A>T	XP_006724177.2:p.Ile215Leu
XM_011529839.2:c.1249A>T	XP_011528141.1:p.Ile417Leu
XM_011529840.3:c.1168-1033A>T	XP_011528142.1:n.1168-1033A>T
XM_011529842.2:c.919A>T	XP_011528144.1:p.Ile307Leu
XM_011529845.2:c.427A>T	XP_011528147.1:p.Ile143Leu
XM_017028560.1:c.1213A>T	XP_016884049.1:p.Ile405Leu
XM_017028561.2:c.427A>T	XP_016884050.1:p.Ile143Leu
XM_024452148.1:c.1120A>T	XP_024307916.1:p.Ile374Leu
XM_024452149.1:c.1039-1033A>T	XP_024307917.1:n.1039-1033A>T
XR_937805.2:n.1260A>T
XR_937806.2:n.1179-1033A>T
NM_001005735.2:c.1219A>T	NP_001005735.1:p.Ile407Leu
NM_001257387.2:c.427A>T	NP_001244316.1:p.Ile143Leu
NM_001349956.2:c.889A>T	NP_001336885.1:p.Ile297Leu