Canonical Allele Identifier: CA411096538

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2778806
• ClinVar RCV Id: RCV003607632
• MyVariant Identifiers: chr22:g.29091707A>T (hg19) ; chr22:g.28695719A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695719A>T , CM000684.2:g.28695719A>T	GRCh38
NC_000022.10:g.29091707A>T , CM000684.1:g.29091707A>T	GRCh37
NC_000022.9:g.27421707A>T	NCBI36
NG_008150.1:g.51116T>A
NG_008150.2:g.51148T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-477T>A	ENSP00000518557.1:n.1009-477T>A
ENST00000402731.6:c.1049T>A	ENSP00000384835.2:p.Leu350His
ENST00000404276.6:c.1250T>A MANE Select	ENSP00000385747.1:p.Leu417His
ENST00000425190.7:c.587T>A	ENSP00000390244.2:p.Leu196His
ENST00000464581.6:c.590T>A	ENSP00000483777.2:p.Leu197His
ENST00000648295.1:n.802T>A
ENST00000649563.1:c.587T>A	ENSP00000496928.1:p.Leu196His
ENST00000650281.1:c.1250T>A	ENSP00000497000.1:p.Leu417His
ENST00000328354.10:c.1250T>A	ENSP00000329178.6:p.Leu417His
ENST00000348295.7:c.1163T>A	ENSP00000329012.5:p.Leu388His
ENST00000382580.6:c.1379T>A	ENSP00000372023.2:p.Leu460His
ENST00000402731.5:c.1163T>A	ENSP00000384835.1:p.Leu388His
ENST00000403642.5:c.977T>A	ENSP00000384919.1:p.Leu326His
ENST00000404276.5:c.1250T>A	ENSP00000385747.1:p.Leu417His
ENST00000405598.5:c.1250T>A	ENSP00000386087.1:p.Leu417His
ENST00000416671.5:c.*740T>A	ENSP00000402225.1:n.*740T>A
ENST00000417588.5:c.1159T>A	ENSP00000412901.1:n.1159T>A
ENST00000433728.5:c.1188T>A	ENSP00000404400.1:n.1188T>A
ENST00000434810.5:c.481T>A
ENST00000448511.5:c.1140T>A	ENSP00000404567.1:n.1140T>A
ENST00000456369.5:c.263+4119T>A
NM_001005735.1:c.1379T>A	NP_001005735.1:p.Leu460His
NM_001257387.1:c.587T>A	NP_001244316.1:p.Leu196His
NM_007194.3:c.1250T>A	NP_009125.1:p.Leu417His
NM_145862.2:c.1163T>A	NP_665861.1:p.Leu388His
XM_006724114.2:c.770T>A	XP_006724177.1:p.Leu257His
XM_006724116.2:c.707T>A	XP_006724179.2:p.Leu236His
XM_011529839.1:c.1409T>A	XP_011528141.1:p.Leu470His
XM_011529840.1:c.1322T>A	XP_011528142.1:p.Leu441His
XM_011529841.1:c.1178T>A	XP_011528143.1:p.Leu393His
XM_011529842.1:c.1079T>A	XP_011528144.1:p.Leu360His
XM_011529843.1:c.1049T>A	XP_011528145.1:p.Leu350His
XM_011529845.1:c.587T>A	XP_011528147.1:p.Leu196His
XR_937805.1:n.1409T>A
NM_001349956.1:c.1049T>A	NP_001336885.1:p.Leu350His
NM_007194.4:c.1250T>A MANE Select	NP_009125.1:p.Leu417His
XM_006724114.3:c.803T>A	XP_006724177.2:p.Leu268His
XM_011529839.2:c.1409T>A	XP_011528141.1:p.Leu470His
XM_011529840.3:c.1322T>A	XP_011528142.1:p.Leu441His
XM_011529842.2:c.1079T>A	XP_011528144.1:p.Leu360His
XM_011529845.2:c.587T>A	XP_011528147.1:p.Leu196His
XM_017028560.1:c.1373T>A	XP_016884049.1:p.Leu458His
XM_017028561.2:c.587T>A	XP_016884050.1:p.Leu196His
XM_024452148.1:c.1280T>A	XP_024307916.1:p.Leu427His
XM_024452149.1:c.1193T>A	XP_024307917.1:p.Leu398His
XR_937805.2:n.1420T>A
NM_001005735.2:c.1379T>A	NP_001005735.1:p.Leu460His
NM_001257387.2:c.587T>A	NP_001244316.1:p.Leu196His
NM_001349956.2:c.1049T>A	NP_001336885.1:p.Leu350His