Canonical Allele Identifier: CA411094400

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 460802
• ClinVar RCV Id: RCV000549012 ; RCV001535607 ; RCV002395340
• dbSNP Id: rs1555913161
• MyVariant Identifiers: chr22:g.29090081A>C (hg19) ; chr22:g.28694093A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*135T>G	ENSP00000518557.1:n.*135T>G
ENST00000402731.6:c.1199T>G	ENSP00000384835.2:p.Leu400Trp
ENST00000404276.6:c.1400T>G MANE Select	ENSP00000385747.1:p.Leu467Trp
ENST00000425190.7:c.737T>G	ENSP00000390244.2:p.Leu246Trp
ENST00000464581.6:c.740T>G	ENSP00000483777.2:p.Leu247Trp
ENST00000648295.1:n.952T>G
ENST00000649563.1:c.737T>G	ENSP00000496928.1:p.Leu246Trp
ENST00000650281.1:c.1400T>G	ENSP00000497000.1:p.Leu467Trp
ENST00000328354.10:c.1400T>G	ENSP00000329178.6:p.Leu467Trp
ENST00000348295.7:c.1313T>G	ENSP00000329012.5:p.Leu438Trp
ENST00000382580.6:c.1529T>G	ENSP00000372023.2:p.Leu510Trp
ENST00000402731.5:c.1313T>G	ENSP00000384835.1:p.Leu438Trp
ENST00000403642.5:c.1127T>G	ENSP00000384919.1:p.Leu376Trp
ENST00000404276.5:c.1400T>G	ENSP00000385747.1:p.Leu467Trp
ENST00000405598.5:c.1400T>G	ENSP00000386087.1:p.Leu467Trp
ENST00000416671.5:c.*890T>G	ENSP00000402225.1:n.*890T>G
ENST00000417588.5:c.1309T>G	ENSP00000412901.1:n.1309T>G
ENST00000433728.5:c.1338T>G	ENSP00000404400.1:n.1338T>G
ENST00000434810.5:c.598T>G
ENST00000448511.5:c.1290T>G	ENSP00000404567.1:n.1290T>G
ENST00000456369.5:c.264-4878T>G
NM_001005735.1:c.1529T>G	NP_001005735.1:p.Leu510Trp
NM_001257387.1:c.737T>G	NP_001244316.1:p.Leu246Trp
NM_007194.3:c.1400T>G	NP_009125.1:p.Leu467Trp
NM_145862.2:c.1313T>G	NP_665861.1:p.Leu438Trp
XM_006724114.2:c.920T>G	XP_006724177.1:p.Leu307Trp
XM_006724116.2:c.857T>G	XP_006724179.2:p.Leu286Trp
XM_011529839.1:c.1559T>G	XP_011528141.1:p.Leu520Trp
XM_011529840.1:c.1472T>G	XP_011528142.1:p.Leu491Trp
XM_011529841.1:c.1328T>G	XP_011528143.1:p.Leu443Trp
XM_011529842.1:c.1229T>G	XP_011528144.1:p.Leu410Trp
XM_011529843.1:c.1199T>G	XP_011528145.1:p.Leu400Trp
XM_011529845.1:c.737T>G	XP_011528147.1:p.Leu246Trp
XR_937805.1:n.1559T>G
NM_001349956.1:c.1199T>G	NP_001336885.1:p.Leu400Trp
NM_007194.4:c.1400T>G MANE Select	NP_009125.1:p.Leu467Trp
XM_006724114.3:c.953T>G	XP_006724177.2:p.Leu318Trp
XM_011529839.2:c.1559T>G	XP_011528141.1:p.Leu520Trp
XM_011529840.3:c.1472T>G	XP_011528142.1:p.Leu491Trp
XM_011529842.2:c.1229T>G	XP_011528144.1:p.Leu410Trp
XM_011529845.2:c.737T>G	XP_011528147.1:p.Leu246Trp
XM_017028560.1:c.1523T>G	XP_016884049.1:p.Leu508Trp
XM_017028561.2:c.737T>G	XP_016884050.1:p.Leu246Trp
XM_024452148.1:c.1430T>G	XP_024307916.1:p.Leu477Trp
XM_024452149.1:c.1343T>G	XP_024307917.1:p.Leu448Trp
XR_937805.2:n.1570T>G
NM_001005735.2:c.1529T>G	NP_001005735.1:p.Leu510Trp
NM_001257387.2:c.737T>G	NP_001244316.1:p.Leu246Trp
NM_001349956.2:c.1199T>G	NP_001336885.1:p.Leu400Trp