Canonical Allele Identifier: CA411097049

Gene: CHEK2

Linked Data

• dbSNP Id: rs2145806184
• MyVariant Identifiers: chr22:g.29091832C>A (hg19) ; chr22:g.28695844C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695844C>A , CM000684.2:g.28695844C>A	GRCh38
NC_000022.10:g.29091832C>A , CM000684.1:g.29091832C>A	GRCh37
NC_000022.9:g.27421832C>A	NCBI36
NG_008150.1:g.50991G>T
NG_008150.2:g.51023G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-602G>T	ENSP00000518557.1:n.1009-602G>T
ENST00000402731.6:c.924G>T	ENSP00000384835.2:p.Leu308Phe
ENST00000404276.6:c.1125G>T MANE Select	ENSP00000385747.1:p.Leu375Phe
ENST00000425190.7:c.462G>T	ENSP00000390244.2:p.Leu154Phe
ENST00000464581.6:c.465G>T	ENSP00000483777.2:p.Leu155Phe
ENST00000648295.1:n.677G>T
ENST00000649563.1:c.462G>T	ENSP00000496928.1:p.Leu154Phe
ENST00000650281.1:c.1125G>T	ENSP00000497000.1:p.Leu375Phe
ENST00000328354.10:c.1125G>T	ENSP00000329178.6:p.Leu375Phe
ENST00000348295.7:c.1038G>T	ENSP00000329012.5:p.Leu346Phe
ENST00000382580.6:c.1254G>T	ENSP00000372023.2:p.Leu418Phe
ENST00000402731.5:c.1038G>T	ENSP00000384835.1:p.Leu346Phe
ENST00000403642.5:c.852G>T	ENSP00000384919.1:p.Leu284Phe
ENST00000404276.5:c.1125G>T	ENSP00000385747.1:p.Leu375Phe
ENST00000405598.5:c.1125G>T	ENSP00000386087.1:p.Leu375Phe
ENST00000416671.5:c.*615G>T	ENSP00000402225.1:n.*615G>T
ENST00000417588.5:c.1034G>T	ENSP00000412901.1:n.1034G>T
ENST00000433728.5:c.1063G>T	ENSP00000404400.1:n.1063G>T
ENST00000434810.5:c.356G>T
ENST00000448511.5:c.1015G>T	ENSP00000404567.1:n.1015G>T
ENST00000456369.5:c.263+3994G>T
NM_001005735.1:c.1254G>T	NP_001005735.1:p.Leu418Phe
NM_001257387.1:c.462G>T	NP_001244316.1:p.Leu154Phe
NM_007194.3:c.1125G>T	NP_009125.1:p.Leu375Phe
NM_145862.2:c.1038G>T	NP_665861.1:p.Leu346Phe
XM_006724114.2:c.645G>T	XP_006724177.1:p.Leu215Phe
XM_006724116.2:c.582G>T	XP_006724179.2:p.Leu194Phe
XM_011529839.1:c.1284G>T	XP_011528141.1:p.Leu428Phe
XM_011529840.1:c.1197G>T	XP_011528142.1:p.Leu399Phe
XM_011529841.1:c.1053G>T	XP_011528143.1:p.Leu351Phe
XM_011529842.1:c.954G>T	XP_011528144.1:p.Leu318Phe
XM_011529843.1:c.924G>T	XP_011528145.1:p.Leu308Phe
XM_011529845.1:c.462G>T	XP_011528147.1:p.Leu154Phe
XR_937805.1:n.1284G>T
XR_937806.1:n.1192G>T
NM_001349956.1:c.924G>T	NP_001336885.1:p.Leu308Phe
NM_007194.4:c.1125G>T MANE Select	NP_009125.1:p.Leu375Phe
XM_006724114.3:c.678G>T	XP_006724177.2:p.Leu226Phe
XM_011529839.2:c.1284G>T	XP_011528141.1:p.Leu428Phe
XM_011529840.3:c.1197G>T	XP_011528142.1:p.Leu399Phe
XM_011529842.2:c.954G>T	XP_011528144.1:p.Leu318Phe
XM_011529845.2:c.462G>T	XP_011528147.1:p.Leu154Phe
XM_017028560.1:c.1248G>T	XP_016884049.1:p.Leu416Phe
XM_017028561.2:c.462G>T	XP_016884050.1:p.Leu154Phe
XM_024452148.1:c.1155G>T	XP_024307916.1:p.Leu385Phe
XM_024452149.1:c.1068G>T	XP_024307917.1:p.Leu356Phe
XR_937805.2:n.1295G>T
XR_937806.2:n.1208G>T
NM_001005735.2:c.1254G>T	NP_001005735.1:p.Leu418Phe
NM_001257387.2:c.462G>T	NP_001244316.1:p.Leu154Phe
NM_001349956.2:c.924G>T	NP_001336885.1:p.Leu308Phe