Canonical Allele Identifier: CA411099339

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2133385
• ClinVar RCV Id: RCV003064029 ; RCV003170956
• MyVariant Identifiers: chr22:g.29095833G>A (hg19) ; chr22:g.28699845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699845G>A , CM000684.2:g.28699845G>A	GRCh38
NC_000022.10:g.29095833G>A , CM000684.1:g.29095833G>A	GRCh37
NC_000022.9:g.27425833G>A	NCBI36
NG_008150.1:g.46990C>T
NG_008150.2:g.47022C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.910C>T	ENSP00000396903.2:n.910C>T
ENST00000711048.1:c.1001C>T	ENSP00000518557.1:p.Ala334Val
ENST00000402731.6:c.800C>T	ENSP00000384835.2:p.Ala267Val
ENST00000404276.6:c.1001C>T MANE Select	ENSP00000385747.1:p.Ala334Val
ENST00000425190.7:c.338C>T	ENSP00000390244.2:p.Ala113Val
ENST00000464581.6:c.341C>T	ENSP00000483777.2:p.Ala114Val
ENST00000648295.1:n.553C>T
ENST00000649563.1:c.338C>T	ENSP00000496928.1:p.Ala113Val
ENST00000650281.1:c.1001C>T	ENSP00000497000.1:p.Ala334Val
ENST00000328354.10:c.1001C>T	ENSP00000329178.6:p.Ala334Val
ENST00000348295.7:c.1001C>T	ENSP00000329012.5:p.Ala334Val
ENST00000382580.6:c.1130C>T	ENSP00000372023.2:p.Ala377Val
ENST00000402731.5:c.1001C>T	ENSP00000384835.1:p.Ala334Val
ENST00000403642.5:c.728C>T	ENSP00000384919.1:p.Ala243Val
ENST00000404276.5:c.1001C>T	ENSP00000385747.1:p.Ala334Val
ENST00000405598.5:c.1001C>T	ENSP00000386087.1:p.Ala334Val
ENST00000416671.5:c.*491C>T	ENSP00000402225.1:n.*491C>T
ENST00000417588.5:c.910C>T	ENSP00000412901.1:n.910C>T
ENST00000425190.6:c.338C>T	ENSP00000390244.1:p.Ala113Val
ENST00000433028.6:c.*726C>T	ENSP00000403659.1:n.*726C>T
ENST00000433728.5:c.939C>T	ENSP00000404400.1:n.939C>T
ENST00000434810.5:c.232C>T
ENST00000439346.5:c.472C>T	ENSP00000396903.1:n.472C>T
ENST00000447421.5:c.800C>T	ENSP00000397478.2:p.Ala267Val
ENST00000448511.5:c.891C>T	ENSP00000404567.1:n.891C>T
ENST00000456369.5:c.256C>T
ENST00000464581.5:c.341C>T	ENSP00000483777.1:p.Ala114Val
ENST00000491919.5:n.558C>T
NM_001005735.1:c.1130C>T	NP_001005735.1:p.Ala377Val
NM_001257387.1:c.338C>T	NP_001244316.1:p.Ala113Val
NM_007194.3:c.1001C>T	NP_009125.1:p.Ala334Val
NM_145862.2:c.1001C>T	NP_665861.1:p.Ala334Val
XM_006724114.2:c.521C>T	XP_006724177.1:p.Ala174Val
XM_006724116.2:c.458C>T	XP_006724179.2:p.Ala153Val
XM_011529839.1:c.1160C>T	XP_011528141.1:p.Ala387Val
XM_011529840.1:c.1160C>T	XP_011528142.1:p.Ala387Val
XM_011529841.1:c.929C>T	XP_011528143.1:p.Ala310Val
XM_011529842.1:c.830C>T	XP_011528144.1:p.Ala277Val
XM_011529843.1:c.800C>T	XP_011528145.1:p.Ala267Val
XM_011529844.1:c.1160C>T	XP_011528146.1:p.Ala387Val
XM_011529845.1:c.338C>T	XP_011528147.1:p.Ala113Val
XR_937805.1:n.1160C>T
XR_937806.1:n.1155C>T
XR_937807.1:n.1155C>T
NM_001349956.1:c.800C>T	NP_001336885.1:p.Ala267Val
NM_007194.4:c.1001C>T MANE Select	NP_009125.1:p.Ala334Val
XM_006724114.3:c.554C>T	XP_006724177.2:p.Ala185Val
XM_011529839.2:c.1160C>T	XP_011528141.1:p.Ala387Val
XM_011529840.3:c.1160C>T	XP_011528142.1:p.Ala387Val
XM_011529842.2:c.830C>T	XP_011528144.1:p.Ala277Val
XM_011529844.2:c.1160C>T	XP_011528146.1:p.Ala387Val
XM_011529845.2:c.338C>T	XP_011528147.1:p.Ala113Val
XM_017028560.1:c.1124C>T	XP_016884049.1:p.Ala375Val
XM_017028561.2:c.338C>T	XP_016884050.1:p.Ala113Val
XM_024452148.1:c.1031C>T	XP_024307916.1:p.Ala344Val
XM_024452149.1:c.1031C>T	XP_024307917.1:p.Ala344Val
XR_937805.2:n.1171C>T
XR_937806.2:n.1171C>T
XR_937807.2:n.1171C>T
NM_001005735.2:c.1130C>T	NP_001005735.1:p.Ala377Val
NM_001257387.2:c.338C>T	NP_001244316.1:p.Ala113Val
NM_001349956.2:c.800C>T	NP_001336885.1:p.Ala267Val