Canonical Allele Identifier: CA411096985

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29091824G>C (hg19) ; chr22:g.28695836G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695836G>C , CM000684.2:g.28695836G>C	GRCh38
NC_000022.10:g.29091824G>C , CM000684.1:g.29091824G>C	GRCh37
NC_000022.9:g.27421824G>C	NCBI36
NG_008150.1:g.50999C>G
NG_008150.2:g.51031C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-594C>G	ENSP00000518557.1:n.1009-594C>G
ENST00000402731.6:c.932C>G	ENSP00000384835.2:p.Thr311Ser
ENST00000404276.6:c.1133C>G MANE Select	ENSP00000385747.1:p.Thr378Ser
ENST00000425190.7:c.470C>G	ENSP00000390244.2:p.Thr157Ser
ENST00000464581.6:c.473C>G	ENSP00000483777.2:p.Thr158Ser
ENST00000648295.1:n.685C>G
ENST00000649563.1:c.470C>G	ENSP00000496928.1:p.Thr157Ser
ENST00000650281.1:c.1133C>G	ENSP00000497000.1:p.Thr378Ser
ENST00000328354.10:c.1133C>G	ENSP00000329178.6:p.Thr378Ser
ENST00000348295.7:c.1046C>G	ENSP00000329012.5:p.Thr349Ser
ENST00000382580.6:c.1262C>G	ENSP00000372023.2:p.Thr421Ser
ENST00000402731.5:c.1046C>G	ENSP00000384835.1:p.Thr349Ser
ENST00000403642.5:c.860C>G	ENSP00000384919.1:p.Thr287Ser
ENST00000404276.5:c.1133C>G	ENSP00000385747.1:p.Thr378Ser
ENST00000405598.5:c.1133C>G	ENSP00000386087.1:p.Thr378Ser
ENST00000416671.5:c.*623C>G	ENSP00000402225.1:n.*623C>G
ENST00000417588.5:c.1042C>G	ENSP00000412901.1:n.1042C>G
ENST00000433728.5:c.1071C>G	ENSP00000404400.1:n.1071C>G
ENST00000434810.5:c.364C>G
ENST00000448511.5:c.1023C>G	ENSP00000404567.1:n.1023C>G
ENST00000456369.5:c.263+4002C>G
NM_001005735.1:c.1262C>G	NP_001005735.1:p.Thr421Ser
NM_001257387.1:c.470C>G	NP_001244316.1:p.Thr157Ser
NM_007194.3:c.1133C>G	NP_009125.1:p.Thr378Ser
NM_145862.2:c.1046C>G	NP_665861.1:p.Thr349Ser
XM_006724114.2:c.653C>G	XP_006724177.1:p.Thr218Ser
XM_006724116.2:c.590C>G	XP_006724179.2:p.Thr197Ser
XM_011529839.1:c.1292C>G	XP_011528141.1:p.Thr431Ser
XM_011529840.1:c.1205C>G	XP_011528142.1:p.Thr402Ser
XM_011529841.1:c.1061C>G	XP_011528143.1:p.Thr354Ser
XM_011529842.1:c.962C>G	XP_011528144.1:p.Thr321Ser
XM_011529843.1:c.932C>G	XP_011528145.1:p.Thr311Ser
XM_011529845.1:c.470C>G	XP_011528147.1:p.Thr157Ser
XR_937805.1:n.1292C>G
XR_937806.1:n.1200C>G
NM_001349956.1:c.932C>G	NP_001336885.1:p.Thr311Ser
NM_007194.4:c.1133C>G MANE Select	NP_009125.1:p.Thr378Ser
XM_006724114.3:c.686C>G	XP_006724177.2:p.Thr229Ser
XM_011529839.2:c.1292C>G	XP_011528141.1:p.Thr431Ser
XM_011529840.3:c.1205C>G	XP_011528142.1:p.Thr402Ser
XM_011529842.2:c.962C>G	XP_011528144.1:p.Thr321Ser
XM_011529845.2:c.470C>G	XP_011528147.1:p.Thr157Ser
XM_017028560.1:c.1256C>G	XP_016884049.1:p.Thr419Ser
XM_017028561.2:c.470C>G	XP_016884050.1:p.Thr157Ser
XM_024452148.1:c.1163C>G	XP_024307916.1:p.Thr388Ser
XM_024452149.1:c.1076C>G	XP_024307917.1:p.Thr359Ser
XR_937805.2:n.1303C>G
XR_937806.2:n.1216C>G
NM_001005735.2:c.1262C>G	NP_001005735.1:p.Thr421Ser
NM_001257387.2:c.470C>G	NP_001244316.1:p.Thr157Ser
NM_001349956.2:c.932C>G	NP_001336885.1:p.Thr311Ser