Canonical Allele Identifier: CA411097129

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29091846G>C (hg19) ; chr22:g.28695858G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695858G>C , CM000684.2:g.28695858G>C	GRCh38
NC_000022.10:g.29091846G>C , CM000684.1:g.29091846G>C	GRCh37
NC_000022.9:g.27421846G>C	NCBI36
NG_008150.1:g.50977C>G
NG_008150.2:g.51009C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-616C>G	ENSP00000518557.1:n.1009-616C>G
ENST00000402731.6:c.910C>G	ENSP00000384835.2:p.His304Asp
ENST00000404276.6:c.1111C>G MANE Select	ENSP00000385747.1:p.His371Asp
ENST00000425190.7:c.448C>G	ENSP00000390244.2:p.His150Asp
ENST00000464581.6:c.451C>G	ENSP00000483777.2:p.His151Asp
ENST00000648295.1:n.663C>G
ENST00000649563.1:c.448C>G	ENSP00000496928.1:p.His150Asp
ENST00000650281.1:c.1111C>G	ENSP00000497000.1:p.His371Asp
ENST00000328354.10:c.1111C>G	ENSP00000329178.6:p.His371Asp
ENST00000348295.7:c.1024C>G	ENSP00000329012.5:p.His342Asp
ENST00000382580.6:c.1240C>G	ENSP00000372023.2:p.His414Asp
ENST00000402731.5:c.1024C>G	ENSP00000384835.1:p.His342Asp
ENST00000403642.5:c.838C>G	ENSP00000384919.1:p.His280Asp
ENST00000404276.5:c.1111C>G	ENSP00000385747.1:p.His371Asp
ENST00000405598.5:c.1111C>G	ENSP00000386087.1:p.His371Asp
ENST00000416671.5:c.*601C>G	ENSP00000402225.1:n.*601C>G
ENST00000417588.5:c.1020C>G	ENSP00000412901.1:n.1020C>G
ENST00000433728.5:c.1049C>G	ENSP00000404400.1:n.1049C>G
ENST00000434810.5:c.342C>G
ENST00000448511.5:c.1001C>G	ENSP00000404567.1:n.1001C>G
ENST00000456369.5:c.263+3980C>G
NM_001005735.1:c.1240C>G	NP_001005735.1:p.His414Asp
NM_001257387.1:c.448C>G	NP_001244316.1:p.His150Asp
NM_007194.3:c.1111C>G	NP_009125.1:p.His371Asp
NM_145862.2:c.1024C>G	NP_665861.1:p.His342Asp
XM_006724114.2:c.631C>G	XP_006724177.1:p.His211Asp
XM_006724116.2:c.568C>G	XP_006724179.2:p.His190Asp
XM_011529839.1:c.1270C>G	XP_011528141.1:p.His424Asp
XM_011529840.1:c.1183C>G	XP_011528142.1:p.His395Asp
XM_011529841.1:c.1039C>G	XP_011528143.1:p.His347Asp
XM_011529842.1:c.940C>G	XP_011528144.1:p.His314Asp
XM_011529843.1:c.910C>G	XP_011528145.1:p.His304Asp
XM_011529845.1:c.448C>G	XP_011528147.1:p.His150Asp
XR_937805.1:n.1270C>G
XR_937806.1:n.1178C>G
NM_001349956.1:c.910C>G	NP_001336885.1:p.His304Asp
NM_007194.4:c.1111C>G MANE Select	NP_009125.1:p.His371Asp
XM_006724114.3:c.664C>G	XP_006724177.2:p.His222Asp
XM_011529839.2:c.1270C>G	XP_011528141.1:p.His424Asp
XM_011529840.3:c.1183C>G	XP_011528142.1:p.His395Asp
XM_011529842.2:c.940C>G	XP_011528144.1:p.His314Asp
XM_011529845.2:c.448C>G	XP_011528147.1:p.His150Asp
XM_017028560.1:c.1234C>G	XP_016884049.1:p.His412Asp
XM_017028561.2:c.448C>G	XP_016884050.1:p.His150Asp
XM_024452148.1:c.1141C>G	XP_024307916.1:p.His381Asp
XM_024452149.1:c.1054C>G	XP_024307917.1:p.His352Asp
XR_937805.2:n.1281C>G
XR_937806.2:n.1194C>G
NM_001005735.2:c.1240C>G	NP_001005735.1:p.His414Asp
NM_001257387.2:c.448C>G	NP_001244316.1:p.His150Asp
NM_001349956.2:c.910C>G	NP_001336885.1:p.His304Asp