Canonical Allele Identifier: CA411099386

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29095836A>G (hg19) ; chr22:g.28699848A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699848A>G , CM000684.2:g.28699848A>G	GRCh38
NC_000022.10:g.29095836A>G , CM000684.1:g.29095836A>G	GRCh37
NC_000022.9:g.27425836A>G	NCBI36
NG_008150.1:g.46987T>C
NG_008150.2:g.47019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.907T>C	ENSP00000396903.2:n.907T>C
ENST00000711048.1:c.998T>C	ENSP00000518557.1:p.Leu333Ser
ENST00000402731.6:c.797T>C	ENSP00000384835.2:p.Leu266Ser
ENST00000404276.6:c.998T>C MANE Select	ENSP00000385747.1:p.Leu333Ser
ENST00000425190.7:c.335T>C	ENSP00000390244.2:p.Leu112Ser
ENST00000464581.6:c.338T>C	ENSP00000483777.2:p.Leu113Ser
ENST00000648295.1:n.550T>C
ENST00000649563.1:c.335T>C	ENSP00000496928.1:p.Leu112Ser
ENST00000650281.1:c.998T>C	ENSP00000497000.1:p.Leu333Ser
ENST00000328354.10:c.998T>C	ENSP00000329178.6:p.Leu333Ser
ENST00000348295.7:c.998T>C	ENSP00000329012.5:p.Leu333Ser
ENST00000382580.6:c.1127T>C	ENSP00000372023.2:p.Leu376Ser
ENST00000402731.5:c.998T>C	ENSP00000384835.1:p.Leu333Ser
ENST00000403642.5:c.725T>C	ENSP00000384919.1:p.Leu242Ser
ENST00000404276.5:c.998T>C	ENSP00000385747.1:p.Leu333Ser
ENST00000405598.5:c.998T>C	ENSP00000386087.1:p.Leu333Ser
ENST00000416671.5:c.*488T>C	ENSP00000402225.1:n.*488T>C
ENST00000417588.5:c.907T>C	ENSP00000412901.1:n.907T>C
ENST00000425190.6:c.335T>C	ENSP00000390244.1:p.Leu112Ser
ENST00000433028.6:c.*723T>C	ENSP00000403659.1:n.*723T>C
ENST00000433728.5:c.936T>C	ENSP00000404400.1:n.936T>C
ENST00000434810.5:c.229T>C
ENST00000439346.5:c.469T>C	ENSP00000396903.1:n.469T>C
ENST00000447421.5:c.797T>C	ENSP00000397478.2:p.Leu266Ser
ENST00000448511.5:c.888T>C	ENSP00000404567.1:n.888T>C
ENST00000456369.5:c.253T>C
ENST00000464581.5:c.338T>C	ENSP00000483777.1:p.Leu113Ser
ENST00000491919.5:n.555T>C
NM_001005735.1:c.1127T>C	NP_001005735.1:p.Leu376Ser
NM_001257387.1:c.335T>C	NP_001244316.1:p.Leu112Ser
NM_007194.3:c.998T>C	NP_009125.1:p.Leu333Ser
NM_145862.2:c.998T>C	NP_665861.1:p.Leu333Ser
XM_006724114.2:c.518T>C	XP_006724177.1:p.Leu173Ser
XM_006724116.2:c.455T>C	XP_006724179.2:p.Leu152Ser
XM_011529839.1:c.1157T>C	XP_011528141.1:p.Leu386Ser
XM_011529840.1:c.1157T>C	XP_011528142.1:p.Leu386Ser
XM_011529841.1:c.926T>C	XP_011528143.1:p.Leu309Ser
XM_011529842.1:c.827T>C	XP_011528144.1:p.Leu276Ser
XM_011529843.1:c.797T>C	XP_011528145.1:p.Leu266Ser
XM_011529844.1:c.1157T>C	XP_011528146.1:p.Leu386Ser
XM_011529845.1:c.335T>C	XP_011528147.1:p.Leu112Ser
XR_937805.1:n.1157T>C
XR_937806.1:n.1152T>C
XR_937807.1:n.1152T>C
NM_001349956.1:c.797T>C	NP_001336885.1:p.Leu266Ser
NM_007194.4:c.998T>C MANE Select	NP_009125.1:p.Leu333Ser
XM_006724114.3:c.551T>C	XP_006724177.2:p.Leu184Ser
XM_011529839.2:c.1157T>C	XP_011528141.1:p.Leu386Ser
XM_011529840.3:c.1157T>C	XP_011528142.1:p.Leu386Ser
XM_011529842.2:c.827T>C	XP_011528144.1:p.Leu276Ser
XM_011529844.2:c.1157T>C	XP_011528146.1:p.Leu386Ser
XM_011529845.2:c.335T>C	XP_011528147.1:p.Leu112Ser
XM_017028560.1:c.1121T>C	XP_016884049.1:p.Leu374Ser
XM_017028561.2:c.335T>C	XP_016884050.1:p.Leu112Ser
XM_024452148.1:c.1028T>C	XP_024307916.1:p.Leu343Ser
XM_024452149.1:c.1028T>C	XP_024307917.1:p.Leu343Ser
XR_937805.2:n.1168T>C
XR_937806.2:n.1168T>C
XR_937807.2:n.1168T>C
NM_001005735.2:c.1127T>C	NP_001005735.1:p.Leu376Ser
NM_001257387.2:c.335T>C	NP_001244316.1:p.Leu112Ser
NM_001349956.2:c.797T>C	NP_001336885.1:p.Leu266Ser