Canonical Allele Identifier: CA2582342772

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2584179
• ClinVar RCV Id: RCV003335627

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28724985_28725015del , CM000684.2:g.28724985_28725015del	GRCh38
NC_000022.10:g.29120973_29121003del , CM000684.1:g.29120973_29121003del	GRCh37
NC_000022.9:g.27450973_27451003del	NCBI36
NG_008150.1:g.21821_21851del
NG_008150.2:g.21853_21883del

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.555_585del	ENSP00000396903.2:p.Asn185LysfsTer19
ENST00000454252.2:c.*535_*565del	ENSP00000387451.2:n.*535_*565del
ENST00000711048.1:c.555_585del	ENSP00000518557.1:p.Asn185LysfsTer10
ENST00000402731.6:c.445-91_445-61del	ENSP00000384835.2:n.445-91_445-61del
ENST00000404276.6:c.555_585del MANE Select	ENSP00000385747.1:p.Asn185LysfsTer10
ENST00000425190.7:c.-109_-79del	ENSP00000390244.2:n.-109_-79del
ENST00000649563.1:c.-71-5529_-71-5499del	ENSP00000496928.1:n.-71-5529_-71-5499del
ENST00000650281.1:c.555_585del	ENSP00000497000.1:p.Asn185LysfsTer10
ENST00000328354.10:c.555_585del	ENSP00000329178.6:p.Asn185LysfsTer10
ENST00000348295.7:c.555_585del	ENSP00000329012.5:p.Asn185LysfsTer10
ENST00000382565.5:c.555_585del	ENSP00000372006.2:p.Asn185LysfsTer?
ENST00000382580.6:c.684_714del	ENSP00000372023.2:p.Asn228LysfsTer10
ENST00000402731.5:c.555_585del	ENSP00000384835.1:p.Asn185LysfsTer10
ENST00000403642.5:c.320-5529_320-5499del	ENSP00000384919.1:n.320-5529_320-5499del
ENST00000404276.5:c.555_585del	ENSP00000385747.1:p.Asn185LysfsTer10
ENST00000405598.5:c.555_585del	ENSP00000386087.1:p.Asn185LysfsTer10
ENST00000416671.5:c.555_585del	ENSP00000402225.1:p.Asn185LysfsTer?
ENST00000417588.5:c.555_585del	ENSP00000412901.1:p.Asn185LysfsTer19
ENST00000425190.6:c.-109_-79del	ENSP00000390244.1:n.-109_-79del
ENST00000433028.6:c.445-91_445-61del	ENSP00000403659.1:n.445-91_445-61del
ENST00000433728.5:c.555_585del	ENSP00000404400.1:p.Asn185LysfsTer10
ENST00000439200.5:c.648_678del	ENSP00000408065.1:p.Asn216LysfsTer10
ENST00000439346.5:c.117_147del	ENSP00000396903.1:p.Asn39LysfsTer19
ENST00000447421.5:c.445-91_445-61del	ENSP00000397478.2:n.445-91_445-61del
ENST00000448511.5:c.445-91_445-61del	ENSP00000404567.1:n.445-91_445-61del
ENST00000454252.1:c.673_703del	ENSP00000387451.1:n.673_703del
NM_001005735.1:c.684_714del	NP_001005735.1:p.Asn228LysfsTer10
NM_001257387.1:c.-223_-193del	NP_001244316.1:n.-223_-193del
NM_007194.3:c.555_585del	NP_009125.1:p.Asn185LysfsTer10
NM_145862.2:c.555_585del	NP_665861.1:p.Asn185LysfsTer10
XM_011529839.1:c.714_744del	XP_011528141.1:p.Asn238LysfsTer10
XM_011529840.1:c.714_744del	XP_011528142.1:p.Asn238LysfsTer10
XM_011529841.1:c.574-91_574-61del	XP_011528143.1:n.574-91_574-61del
XM_011529842.1:c.475-91_475-61del	XP_011528144.1:n.475-91_475-61del
XM_011529843.1:c.445-91_445-61del	XP_011528145.1:n.445-91_445-61del
XM_011529844.1:c.714_744del	XP_011528146.1:p.Asn238LysfsTer10
XM_011529845.1:c.-109_-79del	XP_011528147.1:n.-109_-79del
XR_937805.1:n.776_806del
XR_937806.1:n.771_801del
XR_937807.1:n.771_801del
NM_001349956.1:c.445-91_445-61del	NP_001336885.1:n.445-91_445-61del
NM_007194.4:c.555_585del MANE Select	NP_009125.1:p.Asn185LysfsTer10
XM_011529839.2:c.714_744del	XP_011528141.1:p.Asn238LysfsTer10
XM_011529840.3:c.714_744del	XP_011528142.1:p.Asn238LysfsTer10
XM_011529842.2:c.475-91_475-61del	XP_011528144.1:n.475-91_475-61del
XM_011529844.2:c.714_744del	XP_011528146.1:p.Asn238LysfsTer10
XM_011529845.2:c.-109_-79del	XP_011528147.1:n.-109_-79del
XM_017028560.1:c.678_708del	XP_016884049.1:p.Asn226LysfsTer10
XM_024452148.1:c.585_615del	XP_024307916.1:p.Asn195LysfsTer10
XM_024452149.1:c.585_615del	XP_024307917.1:p.Asn195LysfsTer10
XR_937805.2:n.787_817del
XR_937806.2:n.787_817del
XR_937807.2:n.787_817del
NM_001005735.2:c.684_714del	NP_001005735.1:p.Asn228LysfsTer10
NM_001257387.2:c.-223_-193del	NP_001244316.1:n.-223_-193del
NM_001349956.2:c.445-91_445-61del	NP_001336885.1:n.445-91_445-61del