Canonical Allele Identifier: CA411094273

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29090058A>G (hg19) ; chr22:g.28694070A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694070A>G , CM000684.2:g.28694070A>G	GRCh38
NC_000022.10:g.29090058A>G , CM000684.1:g.29090058A>G	GRCh37
NC_000022.9:g.27420058A>G	NCBI36
NG_008150.1:g.52765T>C
NG_008150.2:g.52797T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*158T>C	ENSP00000518557.1:n.*158T>C
ENST00000402731.6:c.1222T>C	ENSP00000384835.2:p.Phe408Leu
ENST00000404276.6:c.1423T>C MANE Select	ENSP00000385747.1:p.Phe475Leu
ENST00000425190.7:c.760T>C	ENSP00000390244.2:p.Phe254Leu
ENST00000464581.6:c.763T>C	ENSP00000483777.2:p.Phe255Leu
ENST00000648295.1:n.975T>C
ENST00000649563.1:c.760T>C	ENSP00000496928.1:p.Phe254Leu
ENST00000650281.1:c.1423T>C	ENSP00000497000.1:p.Phe475Leu
ENST00000328354.10:c.1423T>C	ENSP00000329178.6:p.Phe475Leu
ENST00000348295.7:c.1336T>C	ENSP00000329012.5:p.Phe446Leu
ENST00000382580.6:c.1552T>C	ENSP00000372023.2:p.Phe518Leu
ENST00000402731.5:c.1336T>C	ENSP00000384835.1:p.Phe446Leu
ENST00000403642.5:c.1150T>C	ENSP00000384919.1:p.Phe384Leu
ENST00000404276.5:c.1423T>C	ENSP00000385747.1:p.Phe475Leu
ENST00000405598.5:c.1423T>C	ENSP00000386087.1:p.Phe475Leu
ENST00000416671.5:c.*913T>C	ENSP00000402225.1:n.*913T>C
ENST00000417588.5:c.1332T>C	ENSP00000412901.1:n.1332T>C
ENST00000433728.5:c.1361T>C	ENSP00000404400.1:n.1361T>C
ENST00000434810.5:c.621T>C
ENST00000448511.5:c.1313T>C	ENSP00000404567.1:n.1313T>C
ENST00000456369.5:c.264-4855T>C
NM_001005735.1:c.1552T>C	NP_001005735.1:p.Phe518Leu
NM_001257387.1:c.760T>C	NP_001244316.1:p.Phe254Leu
NM_007194.3:c.1423T>C	NP_009125.1:p.Phe475Leu
NM_145862.2:c.1336T>C	NP_665861.1:p.Phe446Leu
XM_006724114.2:c.943T>C	XP_006724177.1:p.Phe315Leu
XM_006724116.2:c.880T>C	XP_006724179.2:p.Phe294Leu
XM_011529839.1:c.1582T>C	XP_011528141.1:p.Phe528Leu
XM_011529840.1:c.1495T>C	XP_011528142.1:p.Phe499Leu
XM_011529841.1:c.1351T>C	XP_011528143.1:p.Phe451Leu
XM_011529842.1:c.1252T>C	XP_011528144.1:p.Phe418Leu
XM_011529843.1:c.1222T>C	XP_011528145.1:p.Phe408Leu
XM_011529845.1:c.760T>C	XP_011528147.1:p.Phe254Leu
XR_937805.1:n.1582T>C
NM_001349956.1:c.1222T>C	NP_001336885.1:p.Phe408Leu
NM_007194.4:c.1423T>C MANE Select	NP_009125.1:p.Phe475Leu
XM_006724114.3:c.976T>C	XP_006724177.2:p.Phe326Leu
XM_011529839.2:c.1582T>C	XP_011528141.1:p.Phe528Leu
XM_011529840.3:c.1495T>C	XP_011528142.1:p.Phe499Leu
XM_011529842.2:c.1252T>C	XP_011528144.1:p.Phe418Leu
XM_011529845.2:c.760T>C	XP_011528147.1:p.Phe254Leu
XM_017028560.1:c.1546T>C	XP_016884049.1:p.Phe516Leu
XM_017028561.2:c.760T>C	XP_016884050.1:p.Phe254Leu
XM_024452148.1:c.1453T>C	XP_024307916.1:p.Phe485Leu
XM_024452149.1:c.1366T>C	XP_024307917.1:p.Phe456Leu
XR_937805.2:n.1593T>C
NM_001005735.2:c.1552T>C	NP_001005735.1:p.Phe518Leu
NM_001257387.2:c.760T>C	NP_001244316.1:p.Phe254Leu
NM_001349956.2:c.1222T>C	NP_001336885.1:p.Phe408Leu