Canonical Allele Identifier: CA411096642

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29091725C>A (hg19) ; chr22:g.28695737C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695737C>A , CM000684.2:g.28695737C>A	GRCh38
NC_000022.10:g.29091725C>A , CM000684.1:g.29091725C>A	GRCh37
NC_000022.9:g.27421725C>A	NCBI36
NG_008150.1:g.51098G>T
NG_008150.2:g.51130G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-495G>T	ENSP00000518557.1:n.1009-495G>T
ENST00000402731.6:c.1031G>T	ENSP00000384835.2:p.Trp344Leu
ENST00000404276.6:c.1232G>T MANE Select	ENSP00000385747.1:p.Trp411Leu
ENST00000425190.7:c.569G>T	ENSP00000390244.2:p.Trp190Leu
ENST00000464581.6:c.572G>T	ENSP00000483777.2:p.Trp191Leu
ENST00000648295.1:n.784G>T
ENST00000649563.1:c.569G>T	ENSP00000496928.1:p.Trp190Leu
ENST00000650281.1:c.1232G>T	ENSP00000497000.1:p.Trp411Leu
ENST00000328354.10:c.1232G>T	ENSP00000329178.6:p.Trp411Leu
ENST00000348295.7:c.1145G>T	ENSP00000329012.5:p.Trp382Leu
ENST00000382580.6:c.1361G>T	ENSP00000372023.2:p.Trp454Leu
ENST00000402731.5:c.1145G>T	ENSP00000384835.1:p.Trp382Leu
ENST00000403642.5:c.959G>T	ENSP00000384919.1:p.Trp320Leu
ENST00000404276.5:c.1232G>T	ENSP00000385747.1:p.Trp411Leu
ENST00000405598.5:c.1232G>T	ENSP00000386087.1:p.Trp411Leu
ENST00000416671.5:c.*722G>T	ENSP00000402225.1:n.*722G>T
ENST00000417588.5:c.1141G>T	ENSP00000412901.1:n.1141G>T
ENST00000433728.5:c.1170G>T	ENSP00000404400.1:n.1170G>T
ENST00000434810.5:c.463G>T
ENST00000448511.5:c.1122G>T	ENSP00000404567.1:n.1122G>T
ENST00000456369.5:c.263+4101G>T
NM_001005735.1:c.1361G>T	NP_001005735.1:p.Trp454Leu
NM_001257387.1:c.569G>T	NP_001244316.1:p.Trp190Leu
NM_007194.3:c.1232G>T	NP_009125.1:p.Trp411Leu
NM_145862.2:c.1145G>T	NP_665861.1:p.Trp382Leu
XM_006724114.2:c.752G>T	XP_006724177.1:p.Trp251Leu
XM_006724116.2:c.689G>T	XP_006724179.2:p.Trp230Leu
XM_011529839.1:c.1391G>T	XP_011528141.1:p.Trp464Leu
XM_011529840.1:c.1304G>T	XP_011528142.1:p.Trp435Leu
XM_011529841.1:c.1160G>T	XP_011528143.1:p.Trp387Leu
XM_011529842.1:c.1061G>T	XP_011528144.1:p.Trp354Leu
XM_011529843.1:c.1031G>T	XP_011528145.1:p.Trp344Leu
XM_011529845.1:c.569G>T	XP_011528147.1:p.Trp190Leu
XR_937805.1:n.1391G>T
NM_001349956.1:c.1031G>T	NP_001336885.1:p.Trp344Leu
NM_007194.4:c.1232G>T MANE Select	NP_009125.1:p.Trp411Leu
XM_006724114.3:c.785G>T	XP_006724177.2:p.Trp262Leu
XM_011529839.2:c.1391G>T	XP_011528141.1:p.Trp464Leu
XM_011529840.3:c.1304G>T	XP_011528142.1:p.Trp435Leu
XM_011529842.2:c.1061G>T	XP_011528144.1:p.Trp354Leu
XM_011529845.2:c.569G>T	XP_011528147.1:p.Trp190Leu
XM_017028560.1:c.1355G>T	XP_016884049.1:p.Trp452Leu
XM_017028561.2:c.569G>T	XP_016884050.1:p.Trp190Leu
XM_024452148.1:c.1262G>T	XP_024307916.1:p.Trp421Leu
XM_024452149.1:c.1175G>T	XP_024307917.1:p.Trp392Leu
XR_937805.2:n.1402G>T
NM_001005735.2:c.1361G>T	NP_001005735.1:p.Trp454Leu
NM_001257387.2:c.569G>T	NP_001244316.1:p.Trp190Leu
NM_001349956.2:c.1031G>T	NP_001336885.1:p.Trp344Leu