Canonical Allele Identifier: CA10588716

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689149G>A , CM000684.2:g.28689149G>A	GRCh38
NC_000022.10:g.29085137G>A , CM000684.1:g.29085137G>A	GRCh37
NC_000022.9:g.27415137G>A	NCBI36
NG_008150.1:g.57686C>T
NG_008150.2:g.57718C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*263C>T	ENSP00000518557.1:n.*263C>T
ENST00000402731.6:c.1327C>T	ENSP00000384835.2:p.Gln443Ter
ENST00000404276.6:c.1528C>T MANE Select	ENSP00000385747.1:p.Gln510Ter
ENST00000425190.7:c.865C>T	ENSP00000390244.2:p.Gln289Ter
ENST00000464581.6:c.868C>T	ENSP00000483777.2:p.Gln290Ter
ENST00000648295.1:n.1080C>T
ENST00000649563.1:c.865C>T	ENSP00000496928.1:p.Gln289Ter
ENST00000650281.1:c.1528C>T	ENSP00000497000.1:p.Gln510Ter
ENST00000328354.10:c.1528C>T	ENSP00000329178.6:p.Gln510Ter
ENST00000348295.7:c.1441C>T	ENSP00000329012.5:p.Gln481Ter
ENST00000382580.6:c.1657C>T	ENSP00000372023.2:p.Gln553Ter
ENST00000402731.5:c.1441C>T	ENSP00000384835.1:p.Gln481Ter
ENST00000403642.5:c.1255C>T	ENSP00000384919.1:p.Gln419Ter
ENST00000404276.5:c.1528C>T	ENSP00000385747.1:p.Gln510Ter
ENST00000405598.5:c.1528C>T	ENSP00000386087.1:p.Gln510Ter
ENST00000416671.5:c.*1018C>T	ENSP00000402225.1:n.*1018C>T
ENST00000417588.5:c.1437C>T	ENSP00000412901.1:n.1437C>T
ENST00000433728.5:c.1466C>T	ENSP00000404400.1:n.1466C>T
ENST00000434810.5:c.726C>T
ENST00000448511.5:c.1418C>T	ENSP00000404567.1:n.1418C>T
ENST00000456369.5:c.330C>T
ENST00000472807.1:n.262C>T
NM_001005735.1:c.1657C>T	NP_001005735.1:p.Gln553Ter
NM_001257387.1:c.865C>T	NP_001244316.1:p.Gln289Ter
NM_007194.3:c.1528C>T	NP_009125.1:p.Gln510Ter
NM_145862.2:c.1441C>T	NP_665861.1:p.Gln481Ter
XM_006724114.2:c.1048C>T	XP_006724177.1:p.Gln350Ter
XM_006724116.2:c.985C>T	XP_006724179.2:p.Gln329Ter
XM_011529839.1:c.1687C>T	XP_011528141.1:p.Gln563Ter
XM_011529840.1:c.1600C>T	XP_011528142.1:p.Gln534Ter
XM_011529841.1:c.1456C>T	XP_011528143.1:p.Gln486Ter
XM_011529842.1:c.1357C>T	XP_011528144.1:p.Gln453Ter
XM_011529843.1:c.1327C>T	XP_011528145.1:p.Gln443Ter
XM_011529845.1:c.865C>T	XP_011528147.1:p.Gln289Ter
XR_937805.1:n.1687C>T
NM_001349956.1:c.1327C>T	NP_001336885.1:p.Gln443Ter
NM_007194.4:c.1528C>T MANE Select	NP_009125.1:p.Gln510Ter
XM_006724114.3:c.1081C>T	XP_006724177.2:p.Gln361Ter
XM_011529839.2:c.1687C>T	XP_011528141.1:p.Gln563Ter
XM_011529840.3:c.1600C>T	XP_011528142.1:p.Gln534Ter
XM_011529842.2:c.1357C>T	XP_011528144.1:p.Gln453Ter
XM_011529845.2:c.865C>T	XP_011528147.1:p.Gln289Ter
XM_017028560.1:c.1651C>T	XP_016884049.1:p.Gln551Ter
XM_017028561.2:c.865C>T	XP_016884050.1:p.Gln289Ter
XM_024452148.1:c.1558C>T	XP_024307916.1:p.Gln520Ter
XM_024452149.1:c.1471C>T	XP_024307917.1:p.Gln491Ter
XR_937805.2:n.1698C>T
NM_001005735.2:c.1657C>T	NP_001005735.1:p.Gln553Ter
NM_001257387.2:c.865C>T	NP_001244316.1:p.Gln289Ter
NM_001349956.2:c.1327C>T	NP_001336885.1:p.Gln443Ter