Canonical Allele Identifier: CA411107611

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28725091T>G , CM000684.2:g.28725091T>G	GRCh38
NC_000022.10:g.29121079T>G , CM000684.1:g.29121079T>G	GRCh37
NC_000022.9:g.27451079T>G	NCBI36
NG_008150.1:g.21744A>C
NG_008150.2:g.21776A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.478A>C	ENSP00000396903.2:p.Ile160Leu
ENST00000454252.2:c.*458A>C	ENSP00000387451.2:n.*458A>C
ENST00000711048.1:c.478A>C	ENSP00000518557.1:p.Ile160Leu
ENST00000398017.3:c.478A>C	ENSP00000381099.3:p.Ile160Leu
ENST00000402731.6:c.444+152A>C	ENSP00000384835.2:n.444+152A>C
ENST00000404276.6:c.478A>C MANE Select	ENSP00000385747.1:p.Ile160Leu
ENST00000425190.7:c.-186A>C	ENSP00000390244.2:n.-186A>C
ENST00000649563.1:c.-71-5606A>C	ENSP00000496928.1:n.-71-5606A>C
ENST00000650233.1:c.478A>C	ENSP00000497699.1:p.Ile160Leu
ENST00000650281.1:c.478A>C	ENSP00000497000.1:p.Ile160Leu
ENST00000328354.10:c.478A>C	ENSP00000329178.6:p.Ile160Leu
ENST00000348295.7:c.478A>C	ENSP00000329012.5:p.Ile160Leu
ENST00000382565.5:c.478A>C	ENSP00000372006.2:p.Ile160Leu
ENST00000382580.6:c.607A>C	ENSP00000372023.2:p.Ile203Leu
ENST00000398017.2:c.508A>C	ENSP00000381099.2:p.Ile170Leu
ENST00000402731.5:c.478A>C	ENSP00000384835.1:p.Ile160Leu
ENST00000403642.5:c.320-5606A>C	ENSP00000384919.1:n.320-5606A>C
ENST00000404276.5:c.478A>C	ENSP00000385747.1:p.Ile160Leu
ENST00000405598.5:c.478A>C	ENSP00000386087.1:p.Ile160Leu
ENST00000416671.5:c.478A>C	ENSP00000402225.1:p.Ile160Leu
ENST00000417588.5:c.478A>C	ENSP00000412901.1:p.Ile160Leu
ENST00000425190.6:c.-186A>C	ENSP00000390244.1:n.-186A>C
ENST00000433028.6:c.444+152A>C	ENSP00000403659.1:n.444+152A>C
ENST00000433728.5:c.478A>C	ENSP00000404400.1:p.Ile160Leu
ENST00000439200.5:c.571A>C	ENSP00000408065.1:p.Ile191Leu
ENST00000439346.5:c.40A>C	ENSP00000396903.1:p.Ile14Leu
ENST00000447421.5:c.444+152A>C	ENSP00000397478.2:n.444+152A>C
ENST00000448511.5:c.444+152A>C	ENSP00000404567.1:n.444+152A>C
ENST00000454252.1:c.596A>C	ENSP00000387451.1:n.596A>C
NM_001005735.1:c.607A>C	NP_001005735.1:p.Ile203Leu
NM_001257387.1:c.-300A>C	NP_001244316.1:n.-300A>C
NM_007194.3:c.478A>C	NP_009125.1:p.Ile160Leu
NM_145862.2:c.478A>C	NP_665861.1:p.Ile160Leu
XM_011529839.1:c.637A>C	XP_011528141.1:p.Ile213Leu
XM_011529840.1:c.637A>C	XP_011528142.1:p.Ile213Leu
XM_011529841.1:c.573+152A>C	XP_011528143.1:n.573+152A>C
XM_011529842.1:c.474+152A>C	XP_011528144.1:n.474+152A>C
XM_011529843.1:c.444+152A>C	XP_011528145.1:n.444+152A>C
XM_011529844.1:c.637A>C	XP_011528146.1:p.Ile213Leu
XM_011529845.1:c.-186A>C	XP_011528147.1:n.-186A>C
XR_937805.1:n.699A>C
XR_937806.1:n.694A>C
XR_937807.1:n.694A>C
NM_001349956.1:c.444+152A>C	NP_001336885.1:n.444+152A>C
NM_007194.4:c.478A>C MANE Select	NP_009125.1:p.Ile160Leu
XM_011529839.2:c.637A>C	XP_011528141.1:p.Ile213Leu
XM_011529840.3:c.637A>C	XP_011528142.1:p.Ile213Leu
XM_011529842.2:c.474+152A>C	XP_011528144.1:n.474+152A>C
XM_011529844.2:c.637A>C	XP_011528146.1:p.Ile213Leu
XM_011529845.2:c.-186A>C	XP_011528147.1:n.-186A>C
XM_017028560.1:c.601A>C	XP_016884049.1:p.Ile201Leu
XM_024452148.1:c.508A>C	XP_024307916.1:p.Ile170Leu
XM_024452149.1:c.508A>C	XP_024307917.1:p.Ile170Leu
XR_937805.2:n.710A>C
XR_937806.2:n.710A>C
XR_937807.2:n.710A>C
NM_001005735.2:c.607A>C	NP_001005735.1:p.Ile203Leu
NM_001257387.2:c.-300A>C	NP_001244316.1:n.-300A>C
NM_001349956.2:c.444+152A>C	NP_001336885.1:n.444+152A>C