Canonical Allele Identifier: CA513944858

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 744754
• ClinVar RCV Id: RCV001394474
• dbSNP Id: rs1601721811
• MyVariant Identifiers: chr22:g.29091709A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695721A>T , CM000684.2:g.28695721A>T	GRCh38
NC_000022.10:g.29091709A>T , CM000684.1:g.29091709A>T	GRCh37
NC_000022.9:g.27421709A>T	NCBI36
NG_008150.1:g.51114T>A
NG_008150.2:g.51146T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-479T>A	ENSP00000518557.1:n.1009-479T>A
ENST00000402731.6:c.1047T>A	ENSP00000384835.2:p.Ile349=
ENST00000404276.6:c.1248T>A MANE Select	ENSP00000385747.1:p.Ile416=
ENST00000425190.7:c.585T>A	ENSP00000390244.2:p.Ile195=
ENST00000464581.6:c.588T>A	ENSP00000483777.2:p.Ile196=
ENST00000648295.1:n.800T>A
ENST00000649563.1:c.585T>A	ENSP00000496928.1:p.Ile195=
ENST00000650281.1:c.1248T>A	ENSP00000497000.1:p.Ile416=
ENST00000328354.10:c.1248T>A	ENSP00000329178.6:p.Ile416=
ENST00000348295.7:c.1161T>A	ENSP00000329012.5:p.Ile387=
ENST00000382580.6:c.1377T>A	ENSP00000372023.2:p.Ile459=
ENST00000402731.5:c.1161T>A	ENSP00000384835.1:p.Ile387=
ENST00000403642.5:c.975T>A	ENSP00000384919.1:p.Ile325=
ENST00000404276.5:c.1248T>A	ENSP00000385747.1:p.Ile416=
ENST00000405598.5:c.1248T>A	ENSP00000386087.1:p.Ile416=
ENST00000416671.5:c.*738T>A	ENSP00000402225.1:n.*738T>A
ENST00000417588.5:c.1157T>A	ENSP00000412901.1:n.1157T>A
ENST00000433728.5:c.1186T>A	ENSP00000404400.1:n.1186T>A
ENST00000434810.5:c.479T>A
ENST00000448511.5:c.1138T>A	ENSP00000404567.1:n.1138T>A
ENST00000456369.5:c.263+4117T>A
NM_001005735.1:c.1377T>A	NP_001005735.1:p.Ile459=
NM_001257387.1:c.585T>A	NP_001244316.1:p.Ile195=
NM_007194.3:c.1248T>A	NP_009125.1:p.Ile416=
NM_145862.2:c.1161T>A	NP_665861.1:p.Ile387=
XM_006724114.2:c.768T>A	XP_006724177.1:p.Ile256=
XM_006724116.2:c.705T>A	XP_006724179.2:p.Ile235=
XM_011529839.1:c.1407T>A	XP_011528141.1:p.Ile469=
XM_011529840.1:c.1320T>A	XP_011528142.1:p.Ile440=
XM_011529841.1:c.1176T>A	XP_011528143.1:p.Ile392=
XM_011529842.1:c.1077T>A	XP_011528144.1:p.Ile359=
XM_011529843.1:c.1047T>A	XP_011528145.1:p.Ile349=
XM_011529845.1:c.585T>A	XP_011528147.1:p.Ile195=
XR_937805.1:n.1407T>A
NM_001349956.1:c.1047T>A	NP_001336885.1:p.Ile349=
NM_007194.4:c.1248T>A MANE Select	NP_009125.1:p.Ile416=
XM_006724114.3:c.801T>A	XP_006724177.2:p.Ile267=
XM_011529839.2:c.1407T>A	XP_011528141.1:p.Ile469=
XM_011529840.3:c.1320T>A	XP_011528142.1:p.Ile440=
XM_011529842.2:c.1077T>A	XP_011528144.1:p.Ile359=
XM_011529845.2:c.585T>A	XP_011528147.1:p.Ile195=
XM_017028560.1:c.1371T>A	XP_016884049.1:p.Ile457=
XM_017028561.2:c.585T>A	XP_016884050.1:p.Ile195=
XM_024452148.1:c.1278T>A	XP_024307916.1:p.Ile426=
XM_024452149.1:c.1191T>A	XP_024307917.1:p.Ile397=
XR_937805.2:n.1418T>A
NM_001005735.2:c.1377T>A	NP_001005735.1:p.Ile459=
NM_001257387.2:c.585T>A	NP_001244316.1:p.Ile195=
NM_001349956.2:c.1047T>A	NP_001336885.1:p.Ile349=