Canonical Allele Identifier: CA411092341

Gene: CHEK2

Linked Data

• dbSNP Id: rs587780179
• MyVariant Identifiers: chr22:g.29085140G>C (hg19) ; chr22:g.28689152G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689152G>C , CM000684.2:g.28689152G>C	GRCh38
NC_000022.10:g.29085140G>C , CM000684.1:g.29085140G>C	GRCh37
NC_000022.9:g.27415140G>C	NCBI36
NG_008150.1:g.57683C>G
NG_008150.2:g.57715C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*260C>G	ENSP00000518557.1:n.*260C>G
ENST00000402731.6:c.1324C>G	ENSP00000384835.2:p.Pro442Ala
ENST00000404276.6:c.1525C>G MANE Select	ENSP00000385747.1:p.Pro509Ala
ENST00000425190.7:c.862C>G	ENSP00000390244.2:p.Pro288Ala
ENST00000464581.6:c.865C>G	ENSP00000483777.2:p.Pro289Ala
ENST00000648295.1:n.1077C>G
ENST00000649563.1:c.862C>G	ENSP00000496928.1:p.Pro288Ala
ENST00000650281.1:c.1525C>G	ENSP00000497000.1:p.Pro509Ala
ENST00000328354.10:c.1525C>G	ENSP00000329178.6:p.Pro509Ala
ENST00000348295.7:c.1438C>G	ENSP00000329012.5:p.Pro480Ala
ENST00000382580.6:c.1654C>G	ENSP00000372023.2:p.Pro552Ala
ENST00000402731.5:c.1438C>G	ENSP00000384835.1:p.Pro480Ala
ENST00000403642.5:c.1252C>G	ENSP00000384919.1:p.Pro418Ala
ENST00000404276.5:c.1525C>G	ENSP00000385747.1:p.Pro509Ala
ENST00000405598.5:c.1525C>G	ENSP00000386087.1:p.Pro509Ala
ENST00000416671.5:c.*1015C>G	ENSP00000402225.1:n.*1015C>G
ENST00000417588.5:c.1434C>G	ENSP00000412901.1:n.1434C>G
ENST00000433728.5:c.1463C>G	ENSP00000404400.1:n.1463C>G
ENST00000434810.5:c.723C>G
ENST00000448511.5:c.1415C>G	ENSP00000404567.1:n.1415C>G
ENST00000456369.5:c.327C>G
ENST00000472807.1:n.259C>G
NM_001005735.1:c.1654C>G	NP_001005735.1:p.Pro552Ala
NM_001257387.1:c.862C>G	NP_001244316.1:p.Pro288Ala
NM_007194.3:c.1525C>G	NP_009125.1:p.Pro509Ala
NM_145862.2:c.1438C>G	NP_665861.1:p.Pro480Ala
XM_006724114.2:c.1045C>G	XP_006724177.1:p.Pro349Ala
XM_006724116.2:c.982C>G	XP_006724179.2:p.Pro328Ala
XM_011529839.1:c.1684C>G	XP_011528141.1:p.Pro562Ala
XM_011529840.1:c.1597C>G	XP_011528142.1:p.Pro533Ala
XM_011529841.1:c.1453C>G	XP_011528143.1:p.Pro485Ala
XM_011529842.1:c.1354C>G	XP_011528144.1:p.Pro452Ala
XM_011529843.1:c.1324C>G	XP_011528145.1:p.Pro442Ala
XM_011529845.1:c.862C>G	XP_011528147.1:p.Pro288Ala
XR_937805.1:n.1684C>G
NM_001349956.1:c.1324C>G	NP_001336885.1:p.Pro442Ala
NM_007194.4:c.1525C>G MANE Select	NP_009125.1:p.Pro509Ala
XM_006724114.3:c.1078C>G	XP_006724177.2:p.Pro360Ala
XM_011529839.2:c.1684C>G	XP_011528141.1:p.Pro562Ala
XM_011529840.3:c.1597C>G	XP_011528142.1:p.Pro533Ala
XM_011529842.2:c.1354C>G	XP_011528144.1:p.Pro452Ala
XM_011529845.2:c.862C>G	XP_011528147.1:p.Pro288Ala
XM_017028560.1:c.1648C>G	XP_016884049.1:p.Pro550Ala
XM_017028561.2:c.862C>G	XP_016884050.1:p.Pro288Ala
XM_024452148.1:c.1555C>G	XP_024307916.1:p.Pro519Ala
XM_024452149.1:c.1468C>G	XP_024307917.1:p.Pro490Ala
XR_937805.2:n.1695C>G
NM_001005735.2:c.1654C>G	NP_001005735.1:p.Pro552Ala
NM_001257387.2:c.862C>G	NP_001244316.1:p.Pro288Ala
NM_001349956.2:c.1324C>G	NP_001336885.1:p.Pro442Ala