Canonical Allele Identifier: CA411097622

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29092927C>A (hg19) ; chr22:g.28696939C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696939C>A , CM000684.2:g.28696939C>A	GRCh38
NC_000022.10:g.29092927C>A , CM000684.1:g.29092927C>A	GRCh37
NC_000022.9:g.27422927C>A	NCBI36
NG_008150.1:g.49896G>T
NG_008150.2:g.49928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1697G>T	ENSP00000518557.1:n.1009-1697G>T
ENST00000402731.6:c.856G>T	ENSP00000384835.2:p.Val286Phe
ENST00000404276.6:c.1057G>T MANE Select	ENSP00000385747.1:p.Val353Phe
ENST00000425190.7:c.394G>T	ENSP00000390244.2:p.Val132Phe
ENST00000464581.6:c.397G>T	ENSP00000483777.2:p.Val133Phe
ENST00000648295.1:n.609G>T
ENST00000649563.1:c.394G>T	ENSP00000496928.1:p.Val132Phe
ENST00000650281.1:c.1057G>T	ENSP00000497000.1:p.Val353Phe
ENST00000328354.10:c.1057G>T	ENSP00000329178.6:p.Val353Phe
ENST00000348295.7:c.1009-1066G>T	ENSP00000329012.5:n.1009-1066G>T
ENST00000382580.6:c.1186G>T	ENSP00000372023.2:p.Val396Phe
ENST00000402731.5:c.1009-1066G>T	ENSP00000384835.1:n.1009-1066G>T
ENST00000403642.5:c.784G>T	ENSP00000384919.1:p.Val262Phe
ENST00000404276.5:c.1057G>T	ENSP00000385747.1:p.Val353Phe
ENST00000405598.5:c.1057G>T	ENSP00000386087.1:p.Val353Phe
ENST00000416671.5:c.*547G>T	ENSP00000402225.1:n.*547G>T
ENST00000417588.5:c.966G>T	ENSP00000412901.1:n.966G>T
ENST00000433028.6:c.*782G>T	ENSP00000403659.1:n.*782G>T
ENST00000433728.5:c.995G>T	ENSP00000404400.1:n.995G>T
ENST00000434810.5:c.288G>T
ENST00000447421.5:c.856G>T	ENSP00000397478.2:p.Val286Phe
ENST00000448511.5:c.947G>T	ENSP00000404567.1:n.947G>T
ENST00000456369.5:c.263+2899G>T
ENST00000464581.5:c.397G>T	ENSP00000483777.1:p.Val133Phe
NM_001005735.1:c.1186G>T	NP_001005735.1:p.Val396Phe
NM_001257387.1:c.394G>T	NP_001244316.1:p.Val132Phe
NM_007194.3:c.1057G>T	NP_009125.1:p.Val353Phe
NM_145862.2:c.1009-1066G>T	NP_665861.1:n.1009-1066G>T
XM_006724114.2:c.577G>T	XP_006724177.1:p.Val193Phe
XM_006724116.2:c.514G>T	XP_006724179.2:p.Val172Phe
XM_011529839.1:c.1216G>T	XP_011528141.1:p.Val406Phe
XM_011529840.1:c.1168-1066G>T	XP_011528142.1:n.1168-1066G>T
XM_011529841.1:c.985G>T	XP_011528143.1:p.Val329Phe
XM_011529842.1:c.886G>T	XP_011528144.1:p.Val296Phe
XM_011529843.1:c.856G>T	XP_011528145.1:p.Val286Phe
XM_011529845.1:c.394G>T	XP_011528147.1:p.Val132Phe
XR_937805.1:n.1216G>T
XR_937806.1:n.1163-1066G>T
NM_001349956.1:c.856G>T	NP_001336885.1:p.Val286Phe
NM_007194.4:c.1057G>T MANE Select	NP_009125.1:p.Val353Phe
XM_006724114.3:c.610G>T	XP_006724177.2:p.Val204Phe
XM_011529839.2:c.1216G>T	XP_011528141.1:p.Val406Phe
XM_011529840.3:c.1168-1066G>T	XP_011528142.1:n.1168-1066G>T
XM_011529842.2:c.886G>T	XP_011528144.1:p.Val296Phe
XM_011529845.2:c.394G>T	XP_011528147.1:p.Val132Phe
XM_017028560.1:c.1180G>T	XP_016884049.1:p.Val394Phe
XM_017028561.2:c.394G>T	XP_016884050.1:p.Val132Phe
XM_024452148.1:c.1087G>T	XP_024307916.1:p.Val363Phe
XM_024452149.1:c.1039-1066G>T	XP_024307917.1:n.1039-1066G>T
XR_937805.2:n.1227G>T
XR_937806.2:n.1179-1066G>T
NM_001005735.2:c.1186G>T	NP_001005735.1:p.Val396Phe
NM_001257387.2:c.394G>T	NP_001244316.1:p.Val132Phe
NM_001349956.2:c.856G>T	NP_001336885.1:p.Val286Phe