Canonical Allele Identifier: CA411096949

Gene: CHEK2

Linked Data

• dbSNP Id: rs1569114039
• MyVariant Identifiers: chr22:g.29091815A>T (hg19) ; chr22:g.28695827A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695827A>T , CM000684.2:g.28695827A>T	GRCh38
NC_000022.10:g.29091815A>T , CM000684.1:g.29091815A>T	GRCh37
NC_000022.9:g.27421815A>T	NCBI36
NG_008150.1:g.51008T>A
NG_008150.2:g.51040T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-585T>A	ENSP00000518557.1:n.1009-585T>A
ENST00000402731.6:c.941T>A	ENSP00000384835.2:p.Met314Lys
ENST00000404276.6:c.1142T>A MANE Select	ENSP00000385747.1:p.Met381Lys
ENST00000425190.7:c.479T>A	ENSP00000390244.2:p.Met160Lys
ENST00000464581.6:c.482T>A	ENSP00000483777.2:p.Met161Lys
ENST00000648295.1:n.694T>A
ENST00000649563.1:c.479T>A	ENSP00000496928.1:p.Met160Lys
ENST00000650281.1:c.1142T>A	ENSP00000497000.1:p.Met381Lys
ENST00000328354.10:c.1142T>A	ENSP00000329178.6:p.Met381Lys
ENST00000348295.7:c.1055T>A	ENSP00000329012.5:p.Met352Lys
ENST00000382580.6:c.1271T>A	ENSP00000372023.2:p.Met424Lys
ENST00000402731.5:c.1055T>A	ENSP00000384835.1:p.Met352Lys
ENST00000403642.5:c.869T>A	ENSP00000384919.1:p.Met290Lys
ENST00000404276.5:c.1142T>A	ENSP00000385747.1:p.Met381Lys
ENST00000405598.5:c.1142T>A	ENSP00000386087.1:p.Met381Lys
ENST00000416671.5:c.*632T>A	ENSP00000402225.1:n.*632T>A
ENST00000417588.5:c.1051T>A	ENSP00000412901.1:n.1051T>A
ENST00000433728.5:c.1080T>A	ENSP00000404400.1:n.1080T>A
ENST00000434810.5:c.373T>A
ENST00000448511.5:c.1032T>A	ENSP00000404567.1:n.1032T>A
ENST00000456369.5:c.263+4011T>A
NM_001005735.1:c.1271T>A	NP_001005735.1:p.Met424Lys
NM_001257387.1:c.479T>A	NP_001244316.1:p.Met160Lys
NM_007194.3:c.1142T>A	NP_009125.1:p.Met381Lys
NM_145862.2:c.1055T>A	NP_665861.1:p.Met352Lys
XM_006724114.2:c.662T>A	XP_006724177.1:p.Met221Lys
XM_006724116.2:c.599T>A	XP_006724179.2:p.Met200Lys
XM_011529839.1:c.1301T>A	XP_011528141.1:p.Met434Lys
XM_011529840.1:c.1214T>A	XP_011528142.1:p.Met405Lys
XM_011529841.1:c.1070T>A	XP_011528143.1:p.Met357Lys
XM_011529842.1:c.971T>A	XP_011528144.1:p.Met324Lys
XM_011529843.1:c.941T>A	XP_011528145.1:p.Met314Lys
XM_011529845.1:c.479T>A	XP_011528147.1:p.Met160Lys
XR_937805.1:n.1301T>A
XR_937806.1:n.1209T>A
NM_001349956.1:c.941T>A	NP_001336885.1:p.Met314Lys
NM_007194.4:c.1142T>A MANE Select	NP_009125.1:p.Met381Lys
XM_006724114.3:c.695T>A	XP_006724177.2:p.Met232Lys
XM_011529839.2:c.1301T>A	XP_011528141.1:p.Met434Lys
XM_011529840.3:c.1214T>A	XP_011528142.1:p.Met405Lys
XM_011529842.2:c.971T>A	XP_011528144.1:p.Met324Lys
XM_011529845.2:c.479T>A	XP_011528147.1:p.Met160Lys
XM_017028560.1:c.1265T>A	XP_016884049.1:p.Met422Lys
XM_017028561.2:c.479T>A	XP_016884050.1:p.Met160Lys
XM_024452148.1:c.1172T>A	XP_024307916.1:p.Met391Lys
XM_024452149.1:c.1085T>A	XP_024307917.1:p.Met362Lys
XR_937805.2:n.1312T>A
XR_937806.2:n.1225T>A
NM_001005735.2:c.1271T>A	NP_001005735.1:p.Met424Lys
NM_001257387.2:c.479T>A	NP_001244316.1:p.Met160Lys
NM_001349956.2:c.941T>A	NP_001336885.1:p.Met314Lys