Canonical Allele Identifier: CA411094448

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2033510
• ClinVar RCV Id: RCV002872429
• MyVariant Identifiers: chr22:g.29090088T>A (hg19) ; chr22:g.28694100T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694100T>A , CM000684.2:g.28694100T>A	GRCh38
NC_000022.10:g.29090088T>A , CM000684.1:g.29090088T>A	GRCh37
NC_000022.9:g.27420088T>A	NCBI36
NG_008150.1:g.52735A>T
NG_008150.2:g.52767A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*128A>T	ENSP00000518557.1:n.*128A>T
ENST00000402731.6:c.1192A>T	ENSP00000384835.2:p.Lys398Ter
ENST00000404276.6:c.1393A>T MANE Select	ENSP00000385747.1:p.Lys465Ter
ENST00000425190.7:c.730A>T	ENSP00000390244.2:p.Lys244Ter
ENST00000464581.6:c.733A>T	ENSP00000483777.2:p.Lys245Ter
ENST00000648295.1:n.945A>T
ENST00000649563.1:c.730A>T	ENSP00000496928.1:p.Lys244Ter
ENST00000650281.1:c.1393A>T	ENSP00000497000.1:p.Lys465Ter
ENST00000328354.10:c.1393A>T	ENSP00000329178.6:p.Lys465Ter
ENST00000348295.7:c.1306A>T	ENSP00000329012.5:p.Lys436Ter
ENST00000382580.6:c.1522A>T	ENSP00000372023.2:p.Lys508Ter
ENST00000402731.5:c.1306A>T	ENSP00000384835.1:p.Lys436Ter
ENST00000403642.5:c.1120A>T	ENSP00000384919.1:p.Lys374Ter
ENST00000404276.5:c.1393A>T	ENSP00000385747.1:p.Lys465Ter
ENST00000405598.5:c.1393A>T	ENSP00000386087.1:p.Lys465Ter
ENST00000416671.5:c.*883A>T	ENSP00000402225.1:n.*883A>T
ENST00000417588.5:c.1302A>T	ENSP00000412901.1:n.1302A>T
ENST00000433728.5:c.1331A>T	ENSP00000404400.1:n.1331A>T
ENST00000434810.5:c.591A>T
ENST00000448511.5:c.1283A>T	ENSP00000404567.1:n.1283A>T
ENST00000456369.5:c.264-4885A>T
NM_001005735.1:c.1522A>T	NP_001005735.1:p.Lys508Ter
NM_001257387.1:c.730A>T	NP_001244316.1:p.Lys244Ter
NM_007194.3:c.1393A>T	NP_009125.1:p.Lys465Ter
NM_145862.2:c.1306A>T	NP_665861.1:p.Lys436Ter
XM_006724114.2:c.913A>T	XP_006724177.1:p.Lys305Ter
XM_006724116.2:c.850A>T	XP_006724179.2:p.Lys284Ter
XM_011529839.1:c.1552A>T	XP_011528141.1:p.Lys518Ter
XM_011529840.1:c.1465A>T	XP_011528142.1:p.Lys489Ter
XM_011529841.1:c.1321A>T	XP_011528143.1:p.Lys441Ter
XM_011529842.1:c.1222A>T	XP_011528144.1:p.Lys408Ter
XM_011529843.1:c.1192A>T	XP_011528145.1:p.Lys398Ter
XM_011529845.1:c.730A>T	XP_011528147.1:p.Lys244Ter
XR_937805.1:n.1552A>T
NM_001349956.1:c.1192A>T	NP_001336885.1:p.Lys398Ter
NM_007194.4:c.1393A>T MANE Select	NP_009125.1:p.Lys465Ter
XM_006724114.3:c.946A>T	XP_006724177.2:p.Lys316Ter
XM_011529839.2:c.1552A>T	XP_011528141.1:p.Lys518Ter
XM_011529840.3:c.1465A>T	XP_011528142.1:p.Lys489Ter
XM_011529842.2:c.1222A>T	XP_011528144.1:p.Lys408Ter
XM_011529845.2:c.730A>T	XP_011528147.1:p.Lys244Ter
XM_017028560.1:c.1516A>T	XP_016884049.1:p.Lys506Ter
XM_017028561.2:c.730A>T	XP_016884050.1:p.Lys244Ter
XM_024452148.1:c.1423A>T	XP_024307916.1:p.Lys475Ter
XM_024452149.1:c.1336A>T	XP_024307917.1:p.Lys446Ter
XR_937805.2:n.1563A>T
NM_001005735.2:c.1522A>T	NP_001005735.1:p.Lys508Ter
NM_001257387.2:c.730A>T	NP_001244316.1:p.Lys244Ter
NM_001349956.2:c.1192A>T	NP_001336885.1:p.Lys398Ter