Canonical Allele Identifier: CA411094405

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694093A>T , CM000684.2:g.28694093A>T	GRCh38
NC_000022.10:g.29090081A>T , CM000684.1:g.29090081A>T	GRCh37
NC_000022.9:g.27420081A>T	NCBI36
NG_008150.1:g.52742T>A
NG_008150.2:g.52774T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1400T>A MANE Select	NP_009125.1:p.Leu467Ter
ENST00000404276.6:c.1400T>A MANE Select	ENSP00000385747.1:p.Leu467Ter
NM_001005735.1:c.1529T>A	NP_001005735.1:p.Leu510Ter
NM_001005735.2:c.1529T>A	NP_001005735.1:p.Leu510Ter
NM_001257387.1:c.737T>A	NP_001244316.1:p.Leu246Ter
NM_001257387.2:c.737T>A	NP_001244316.1:p.Leu246Ter
NM_001349956.1:c.1199T>A	NP_001336885.1:p.Leu400Ter
NM_001349956.2:c.1199T>A	NP_001336885.1:p.Leu400Ter
NM_007194.3:c.1400T>A	NP_009125.1:p.Leu467Ter
NM_145862.2:c.1313T>A	NP_665861.1:p.Leu438Ter
ENST00000328354.10:c.1400T>A	ENSP00000329178.6:p.Leu467Ter
ENST00000348295.7:c.1313T>A	ENSP00000329012.5:p.Leu438Ter
ENST00000382580.6:c.1529T>A	ENSP00000372023.2:p.Leu510Ter
ENST00000402731.5:c.1313T>A	ENSP00000384835.1:p.Leu438Ter
ENST00000402731.6:c.1199T>A	ENSP00000384835.2:p.Leu400Ter
ENST00000403642.5:c.1127T>A	ENSP00000384919.1:p.Leu376Ter
ENST00000404276.5:c.1400T>A	ENSP00000385747.1:p.Leu467Ter
ENST00000405598.5:c.1400T>A	ENSP00000386087.1:p.Leu467Ter
ENST00000416671.5:c.*890T>A	ENSP00000402225.1:n.*890T>A
ENST00000417588.5:c.1309T>A	ENSP00000412901.1:n.1309T>A
ENST00000425190.7:c.737T>A	ENSP00000390244.2:p.Leu246Ter
ENST00000433728.5:c.1338T>A	ENSP00000404400.1:n.1338T>A
ENST00000434810.5:c.598T>A
ENST00000448511.5:c.1290T>A	ENSP00000404567.1:n.1290T>A
ENST00000456369.5:c.264-4878T>A
ENST00000464581.6:c.740T>A	ENSP00000483777.2:p.Leu247Ter
ENST00000648295.1:n.952T>A
ENST00000649563.1:c.737T>A	ENSP00000496928.1:p.Leu246Ter
ENST00000650281.1:c.1400T>A	ENSP00000497000.1:p.Leu467Ter
ENST00000711048.1:c.*135T>A	ENSP00000518557.1:n.*135T>A
XM_006724114.2:c.920T>A	XP_006724177.1:p.Leu307Ter
XM_006724114.3:c.953T>A	XP_006724177.2:p.Leu318Ter
XM_006724116.2:c.857T>A	XP_006724179.2:p.Leu286Ter
XM_011529839.1:c.1559T>A	XP_011528141.1:p.Leu520Ter
XM_011529839.2:c.1559T>A	XP_011528141.1:p.Leu520Ter
XM_011529840.1:c.1472T>A	XP_011528142.1:p.Leu491Ter
XM_011529840.3:c.1472T>A	XP_011528142.1:p.Leu491Ter
XM_011529841.1:c.1328T>A	XP_011528143.1:p.Leu443Ter
XM_011529842.1:c.1229T>A	XP_011528144.1:p.Leu410Ter
XM_011529842.2:c.1229T>A	XP_011528144.1:p.Leu410Ter
XM_011529843.1:c.1199T>A	XP_011528145.1:p.Leu400Ter
XM_011529845.1:c.737T>A	XP_011528147.1:p.Leu246Ter
XM_011529845.2:c.737T>A	XP_011528147.1:p.Leu246Ter
XM_017028560.1:c.1523T>A	XP_016884049.1:p.Leu508Ter
XM_017028561.2:c.737T>A	XP_016884050.1:p.Leu246Ter
XM_024452148.1:c.1430T>A	XP_024307916.1:p.Leu477Ter
XM_024452149.1:c.1343T>A	XP_024307917.1:p.Leu448Ter
XR_937805.1:n.1559T>A
XR_937805.2:n.1570T>A