Canonical Allele Identifier: CA2580099410

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2039787
• ClinVar RCV Id: RCV002907970

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28724995_28725000del , CM000684.2:g.28724995_28725000del	GRCh38
NC_000022.10:g.29120983_29120988del , CM000684.1:g.29120983_29120988del	GRCh37
NC_000022.9:g.27450983_27450988del	NCBI36
NG_008150.1:g.21839_21844del
NG_008150.2:g.21871_21876del

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.573_578del	ENSP00000396903.2:p.Ser192_Leu193del
ENST00000454252.2:c.*553_*558del	ENSP00000387451.2:n.*553_*558del
ENST00000711048.1:c.573_578del	ENSP00000518557.1:p.Ser192_Leu193del
ENST00000402731.6:c.445-73_445-68del	ENSP00000384835.2:n.445-73_445-68del
ENST00000404276.6:c.573_578del MANE Select	ENSP00000385747.1:p.Ser192_Leu193del
ENST00000425190.7:c.-91_-86del	ENSP00000390244.2:n.-91_-86del
ENST00000649563.1:c.-71-5511_-71-5506del	ENSP00000496928.1:n.-71-5511_-71-5506del
ENST00000650281.1:c.573_578del	ENSP00000497000.1:p.Ser192_Leu193del
ENST00000328354.10:c.573_578del	ENSP00000329178.6:p.Ser192_Leu193del
ENST00000348295.7:c.573_578del	ENSP00000329012.5:p.Ser192_Leu193del
ENST00000382565.5:c.573_578del	ENSP00000372006.2:p.Ser192_Leu193del
ENST00000382580.6:c.702_707del	ENSP00000372023.2:p.Ser235_Leu236del
ENST00000402731.5:c.573_578del	ENSP00000384835.1:p.Ser192_Leu193del
ENST00000403642.5:c.320-5511_320-5506del	ENSP00000384919.1:n.320-5511_320-5506del
ENST00000404276.5:c.573_578del	ENSP00000385747.1:p.Ser192_Leu193del
ENST00000405598.5:c.573_578del	ENSP00000386087.1:p.Ser192_Leu193del
ENST00000416671.5:c.573_578del	ENSP00000402225.1:p.Ser192_Leu193del
ENST00000417588.5:c.573_578del	ENSP00000412901.1:p.Ser192_Leu193del
ENST00000425190.6:c.-91_-86del	ENSP00000390244.1:n.-91_-86del
ENST00000433028.6:c.445-73_445-68del	ENSP00000403659.1:n.445-73_445-68del
ENST00000433728.5:c.573_578del	ENSP00000404400.1:p.Ser192_Leu193del
ENST00000439200.5:c.666_671del	ENSP00000408065.1:p.Ser223_Leu224del
ENST00000439346.5:c.135_140del	ENSP00000396903.1:p.Ser46_Leu47del
ENST00000447421.5:c.445-73_445-68del	ENSP00000397478.2:n.445-73_445-68del
ENST00000448511.5:c.445-73_445-68del	ENSP00000404567.1:n.445-73_445-68del
ENST00000454252.1:c.691_696del	ENSP00000387451.1:n.691_696del
NM_001005735.1:c.702_707del	NP_001005735.1:p.Ser235_Leu236del
NM_001257387.1:c.-205_-200del	NP_001244316.1:n.-205_-200del
NM_007194.3:c.573_578del	NP_009125.1:p.Ser192_Leu193del
NM_145862.2:c.573_578del	NP_665861.1:p.Ser192_Leu193del
XM_011529839.1:c.732_737del	XP_011528141.1:p.Ser245_Leu246del
XM_011529840.1:c.732_737del	XP_011528142.1:p.Ser245_Leu246del
XM_011529841.1:c.574-73_574-68del	XP_011528143.1:n.574-73_574-68del
XM_011529842.1:c.475-73_475-68del	XP_011528144.1:n.475-73_475-68del
XM_011529843.1:c.445-73_445-68del	XP_011528145.1:n.445-73_445-68del
XM_011529844.1:c.732_737del	XP_011528146.1:p.Ser245_Leu246del
XM_011529845.1:c.-91_-86del	XP_011528147.1:n.-91_-86del
XR_937805.1:n.794_799del
XR_937806.1:n.789_794del
XR_937807.1:n.789_794del
NM_001349956.1:c.445-73_445-68del	NP_001336885.1:n.445-73_445-68del
NM_007194.4:c.573_578del MANE Select	NP_009125.1:p.Ser192_Leu193del
XM_011529839.2:c.732_737del	XP_011528141.1:p.Ser245_Leu246del
XM_011529840.3:c.732_737del	XP_011528142.1:p.Ser245_Leu246del
XM_011529842.2:c.475-73_475-68del	XP_011528144.1:n.475-73_475-68del
XM_011529844.2:c.732_737del	XP_011528146.1:p.Ser245_Leu246del
XM_011529845.2:c.-91_-86del	XP_011528147.1:n.-91_-86del
XM_017028560.1:c.696_701del	XP_016884049.1:p.Ser233_Leu234del
XM_024452148.1:c.603_608del	XP_024307916.1:p.Ser202_Leu203del
XM_024452149.1:c.603_608del	XP_024307917.1:p.Ser202_Leu203del
XR_937805.2:n.805_810del
XR_937806.2:n.805_810del
XR_937807.2:n.805_810del
NM_001005735.2:c.702_707del	NP_001005735.1:p.Ser235_Leu236del
NM_001257387.2:c.-205_-200del	NP_001244316.1:n.-205_-200del
NM_001349956.2:c.445-73_445-68del	NP_001336885.1:n.445-73_445-68del