Canonical Allele Identifier: CA513944930

Gene: CHEK2

Linked Data

• dbSNP Id: rs2145805584
• MyVariant Identifiers: chr22:g.29091817G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695829G>C , CM000684.2:g.28695829G>C	GRCh38
NC_000022.10:g.29091817G>C , CM000684.1:g.29091817G>C	GRCh37
NC_000022.9:g.27421817G>C	NCBI36
NG_008150.1:g.51006C>G
NG_008150.2:g.51038C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-587C>G	ENSP00000518557.1:n.1009-587C>G
ENST00000402731.6:c.939C>G	ENSP00000384835.2:p.Leu313=
ENST00000404276.6:c.1140C>G MANE Select	ENSP00000385747.1:p.Leu380=
ENST00000425190.7:c.477C>G	ENSP00000390244.2:p.Leu159=
ENST00000464581.6:c.480C>G	ENSP00000483777.2:p.Leu160=
ENST00000648295.1:n.692C>G
ENST00000649563.1:c.477C>G	ENSP00000496928.1:p.Leu159=
ENST00000650281.1:c.1140C>G	ENSP00000497000.1:p.Leu380=
ENST00000328354.10:c.1140C>G	ENSP00000329178.6:p.Leu380=
ENST00000348295.7:c.1053C>G	ENSP00000329012.5:p.Leu351=
ENST00000382580.6:c.1269C>G	ENSP00000372023.2:p.Leu423=
ENST00000402731.5:c.1053C>G	ENSP00000384835.1:p.Leu351=
ENST00000403642.5:c.867C>G	ENSP00000384919.1:p.Leu289=
ENST00000404276.5:c.1140C>G	ENSP00000385747.1:p.Leu380=
ENST00000405598.5:c.1140C>G	ENSP00000386087.1:p.Leu380=
ENST00000416671.5:c.*630C>G	ENSP00000402225.1:n.*630C>G
ENST00000417588.5:c.1049C>G	ENSP00000412901.1:n.1049C>G
ENST00000433728.5:c.1078C>G	ENSP00000404400.1:n.1078C>G
ENST00000434810.5:c.371C>G
ENST00000448511.5:c.1030C>G	ENSP00000404567.1:n.1030C>G
ENST00000456369.5:c.263+4009C>G
NM_001005735.1:c.1269C>G	NP_001005735.1:p.Leu423=
NM_001257387.1:c.477C>G	NP_001244316.1:p.Leu159=
NM_007194.3:c.1140C>G	NP_009125.1:p.Leu380=
NM_145862.2:c.1053C>G	NP_665861.1:p.Leu351=
XM_006724114.2:c.660C>G	XP_006724177.1:p.Leu220=
XM_006724116.2:c.597C>G	XP_006724179.2:p.Leu199=
XM_011529839.1:c.1299C>G	XP_011528141.1:p.Leu433=
XM_011529840.1:c.1212C>G	XP_011528142.1:p.Leu404=
XM_011529841.1:c.1068C>G	XP_011528143.1:p.Leu356=
XM_011529842.1:c.969C>G	XP_011528144.1:p.Leu323=
XM_011529843.1:c.939C>G	XP_011528145.1:p.Leu313=
XM_011529845.1:c.477C>G	XP_011528147.1:p.Leu159=
XR_937805.1:n.1299C>G
XR_937806.1:n.1207C>G
NM_001349956.1:c.939C>G	NP_001336885.1:p.Leu313=
NM_007194.4:c.1140C>G MANE Select	NP_009125.1:p.Leu380=
XM_006724114.3:c.693C>G	XP_006724177.2:p.Leu231=
XM_011529839.2:c.1299C>G	XP_011528141.1:p.Leu433=
XM_011529840.3:c.1212C>G	XP_011528142.1:p.Leu404=
XM_011529842.2:c.969C>G	XP_011528144.1:p.Leu323=
XM_011529845.2:c.477C>G	XP_011528147.1:p.Leu159=
XM_017028560.1:c.1263C>G	XP_016884049.1:p.Leu421=
XM_017028561.2:c.477C>G	XP_016884050.1:p.Leu159=
XM_024452148.1:c.1170C>G	XP_024307916.1:p.Leu390=
XM_024452149.1:c.1083C>G	XP_024307917.1:p.Leu361=
XR_937805.2:n.1310C>G
XR_937806.2:n.1223C>G
NM_001005735.2:c.1269C>G	NP_001005735.1:p.Leu423=
NM_001257387.2:c.477C>G	NP_001244316.1:p.Leu159=
NM_001349956.2:c.939C>G	NP_001336885.1:p.Leu313=