Canonical Allele Identifier: CA411096969

Gene: CHEK2

Linked Data

• dbSNP Id: rs2145805675
• MyVariant Identifiers: chr22:g.29091819G>A (hg19) ; chr22:g.28695831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695831G>A , CM000684.2:g.28695831G>A	GRCh38
NC_000022.10:g.29091819G>A , CM000684.1:g.29091819G>A	GRCh37
NC_000022.9:g.27421819G>A	NCBI36
NG_008150.1:g.51004C>T
NG_008150.2:g.51036C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-589C>T	ENSP00000518557.1:n.1009-589C>T
ENST00000402731.6:c.937C>T	ENSP00000384835.2:p.Leu313Phe
ENST00000404276.6:c.1138C>T MANE Select	ENSP00000385747.1:p.Leu380Phe
ENST00000425190.7:c.475C>T	ENSP00000390244.2:p.Leu159Phe
ENST00000464581.6:c.478C>T	ENSP00000483777.2:p.Leu160Phe
ENST00000648295.1:n.690C>T
ENST00000649563.1:c.475C>T	ENSP00000496928.1:p.Leu159Phe
ENST00000650281.1:c.1138C>T	ENSP00000497000.1:p.Leu380Phe
ENST00000328354.10:c.1138C>T	ENSP00000329178.6:p.Leu380Phe
ENST00000348295.7:c.1051C>T	ENSP00000329012.5:p.Leu351Phe
ENST00000382580.6:c.1267C>T	ENSP00000372023.2:p.Leu423Phe
ENST00000402731.5:c.1051C>T	ENSP00000384835.1:p.Leu351Phe
ENST00000403642.5:c.865C>T	ENSP00000384919.1:p.Leu289Phe
ENST00000404276.5:c.1138C>T	ENSP00000385747.1:p.Leu380Phe
ENST00000405598.5:c.1138C>T	ENSP00000386087.1:p.Leu380Phe
ENST00000416671.5:c.*628C>T	ENSP00000402225.1:n.*628C>T
ENST00000417588.5:c.1047C>T	ENSP00000412901.1:n.1047C>T
ENST00000433728.5:c.1076C>T	ENSP00000404400.1:n.1076C>T
ENST00000434810.5:c.369C>T
ENST00000448511.5:c.1028C>T	ENSP00000404567.1:n.1028C>T
ENST00000456369.5:c.263+4007C>T
NM_001005735.1:c.1267C>T	NP_001005735.1:p.Leu423Phe
NM_001257387.1:c.475C>T	NP_001244316.1:p.Leu159Phe
NM_007194.3:c.1138C>T	NP_009125.1:p.Leu380Phe
NM_145862.2:c.1051C>T	NP_665861.1:p.Leu351Phe
XM_006724114.2:c.658C>T	XP_006724177.1:p.Leu220Phe
XM_006724116.2:c.595C>T	XP_006724179.2:p.Leu199Phe
XM_011529839.1:c.1297C>T	XP_011528141.1:p.Leu433Phe
XM_011529840.1:c.1210C>T	XP_011528142.1:p.Leu404Phe
XM_011529841.1:c.1066C>T	XP_011528143.1:p.Leu356Phe
XM_011529842.1:c.967C>T	XP_011528144.1:p.Leu323Phe
XM_011529843.1:c.937C>T	XP_011528145.1:p.Leu313Phe
XM_011529845.1:c.475C>T	XP_011528147.1:p.Leu159Phe
XR_937805.1:n.1297C>T
XR_937806.1:n.1205C>T
NM_001349956.1:c.937C>T	NP_001336885.1:p.Leu313Phe
NM_007194.4:c.1138C>T MANE Select	NP_009125.1:p.Leu380Phe
XM_006724114.3:c.691C>T	XP_006724177.2:p.Leu231Phe
XM_011529839.2:c.1297C>T	XP_011528141.1:p.Leu433Phe
XM_011529840.3:c.1210C>T	XP_011528142.1:p.Leu404Phe
XM_011529842.2:c.967C>T	XP_011528144.1:p.Leu323Phe
XM_011529845.2:c.475C>T	XP_011528147.1:p.Leu159Phe
XM_017028560.1:c.1261C>T	XP_016884049.1:p.Leu421Phe
XM_017028561.2:c.475C>T	XP_016884050.1:p.Leu159Phe
XM_024452148.1:c.1168C>T	XP_024307916.1:p.Leu390Phe
XM_024452149.1:c.1081C>T	XP_024307917.1:p.Leu361Phe
XR_937805.2:n.1308C>T
XR_937806.2:n.1221C>T
NM_001005735.2:c.1267C>T	NP_001005735.1:p.Leu423Phe
NM_001257387.2:c.475C>T	NP_001244316.1:p.Leu159Phe
NM_001349956.2:c.937C>T	NP_001336885.1:p.Leu313Phe