Canonical Allele Identifier: CA411097708

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 921230
• ClinVar RCV Id: RCV001180499 ; RCV001226509
• dbSNP Id: rs878854908
• MyVariant Identifiers: chr22:g.29092941A>C (hg19) ; chr22:g.28696953A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696953A>C , CM000684.2:g.28696953A>C	GRCh38
NC_000022.10:g.29092941A>C , CM000684.1:g.29092941A>C	GRCh37
NC_000022.9:g.27422941A>C	NCBI36
NG_008150.1:g.49882T>G
NG_008150.2:g.49914T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1711T>G	ENSP00000518557.1:n.1009-1711T>G
ENST00000402731.6:c.842T>G	ENSP00000384835.2:p.Leu281Ter
ENST00000404276.6:c.1043T>G MANE Select	ENSP00000385747.1:p.Leu348Ter
ENST00000425190.7:c.380T>G	ENSP00000390244.2:p.Leu127Ter
ENST00000464581.6:c.383T>G	ENSP00000483777.2:p.Leu128Ter
ENST00000648295.1:n.595T>G
ENST00000649563.1:c.380T>G	ENSP00000496928.1:p.Leu127Ter
ENST00000650281.1:c.1043T>G	ENSP00000497000.1:p.Leu348Ter
ENST00000328354.10:c.1043T>G	ENSP00000329178.6:p.Leu348Ter
ENST00000348295.7:c.1009-1080T>G	ENSP00000329012.5:n.1009-1080T>G
ENST00000382580.6:c.1172T>G	ENSP00000372023.2:p.Leu391Ter
ENST00000402731.5:c.1009-1080T>G	ENSP00000384835.1:n.1009-1080T>G
ENST00000403642.5:c.770T>G	ENSP00000384919.1:p.Leu257Ter
ENST00000404276.5:c.1043T>G	ENSP00000385747.1:p.Leu348Ter
ENST00000405598.5:c.1043T>G	ENSP00000386087.1:p.Leu348Ter
ENST00000416671.5:c.*533T>G	ENSP00000402225.1:n.*533T>G
ENST00000417588.5:c.952T>G	ENSP00000412901.1:n.952T>G
ENST00000433028.6:c.*768T>G	ENSP00000403659.1:n.*768T>G
ENST00000433728.5:c.981T>G	ENSP00000404400.1:n.981T>G
ENST00000434810.5:c.274T>G
ENST00000447421.5:c.842T>G	ENSP00000397478.2:p.Leu281Ter
ENST00000448511.5:c.933T>G	ENSP00000404567.1:n.933T>G
ENST00000456369.5:c.263+2885T>G
ENST00000464581.5:c.383T>G	ENSP00000483777.1:p.Leu128Ter
ENST00000491919.5:n.600T>G
NM_001005735.1:c.1172T>G	NP_001005735.1:p.Leu391Ter
NM_001257387.1:c.380T>G	NP_001244316.1:p.Leu127Ter
NM_007194.3:c.1043T>G	NP_009125.1:p.Leu348Ter
NM_145862.2:c.1009-1080T>G	NP_665861.1:n.1009-1080T>G
XM_006724114.2:c.563T>G	XP_006724177.1:p.Leu188Ter
XM_006724116.2:c.500T>G	XP_006724179.2:p.Leu167Ter
XM_011529839.1:c.1202T>G	XP_011528141.1:p.Leu401Ter
XM_011529840.1:c.1168-1080T>G	XP_011528142.1:n.1168-1080T>G
XM_011529841.1:c.971T>G	XP_011528143.1:p.Leu324Ter
XM_011529842.1:c.872T>G	XP_011528144.1:p.Leu291Ter
XM_011529843.1:c.842T>G	XP_011528145.1:p.Leu281Ter
XM_011529845.1:c.380T>G	XP_011528147.1:p.Leu127Ter
XR_937805.1:n.1202T>G
XR_937806.1:n.1163-1080T>G
NM_001349956.1:c.842T>G	NP_001336885.1:p.Leu281Ter
NM_007194.4:c.1043T>G MANE Select	NP_009125.1:p.Leu348Ter
XM_006724114.3:c.596T>G	XP_006724177.2:p.Leu199Ter
XM_011529839.2:c.1202T>G	XP_011528141.1:p.Leu401Ter
XM_011529840.3:c.1168-1080T>G	XP_011528142.1:n.1168-1080T>G
XM_011529842.2:c.872T>G	XP_011528144.1:p.Leu291Ter
XM_011529845.2:c.380T>G	XP_011528147.1:p.Leu127Ter
XM_017028560.1:c.1166T>G	XP_016884049.1:p.Leu389Ter
XM_017028561.2:c.380T>G	XP_016884050.1:p.Leu127Ter
XM_024452148.1:c.1073T>G	XP_024307916.1:p.Leu358Ter
XM_024452149.1:c.1039-1080T>G	XP_024307917.1:n.1039-1080T>G
XR_937805.2:n.1213T>G
XR_937806.2:n.1179-1080T>G
NM_001005735.2:c.1172T>G	NP_001005735.1:p.Leu391Ter
NM_001257387.2:c.380T>G	NP_001244316.1:p.Leu127Ter
NM_001349956.2:c.842T>G	NP_001336885.1:p.Leu281Ter