Canonical Allele Identifier: CA411096112

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695205G>A , CM000684.2:g.28695205G>A	GRCh38
NC_000022.10:g.29091193G>A , CM000684.1:g.29091193G>A	GRCh37
NC_000022.9:g.27421193G>A	NCBI36
NG_008150.1:g.51630C>T
NG_008150.2:g.51662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*32C>T	ENSP00000518557.1:n.*32C>T
ENST00000402731.6:c.1096C>T	ENSP00000384835.2:p.Gln366Ter
ENST00000404276.6:c.1297C>T MANE Select	ENSP00000385747.1:p.Gln433Ter
ENST00000425190.7:c.634C>T	ENSP00000390244.2:p.Gln212Ter
ENST00000464581.6:c.637C>T	ENSP00000483777.2:p.Gln213Ter
ENST00000648295.1:n.849C>T
ENST00000649563.1:c.634C>T	ENSP00000496928.1:p.Gln212Ter
ENST00000650281.1:c.1297C>T	ENSP00000497000.1:p.Gln433Ter
ENST00000328354.10:c.1297C>T	ENSP00000329178.6:p.Gln433Ter
ENST00000348295.7:c.1210C>T	ENSP00000329012.5:p.Gln404Ter
ENST00000382580.6:c.1426C>T	ENSP00000372023.2:p.Gln476Ter
ENST00000402731.5:c.1210C>T	ENSP00000384835.1:p.Gln404Ter
ENST00000403642.5:c.1024C>T	ENSP00000384919.1:p.Gln342Ter
ENST00000404276.5:c.1297C>T	ENSP00000385747.1:p.Gln433Ter
ENST00000405598.5:c.1297C>T	ENSP00000386087.1:p.Gln433Ter
ENST00000416671.5:c.*787C>T	ENSP00000402225.1:n.*787C>T
ENST00000417588.5:c.1206C>T	ENSP00000412901.1:n.1206C>T
ENST00000433728.5:c.1235C>T	ENSP00000404400.1:n.1235C>T
ENST00000434810.5:c.495C>T
ENST00000448511.5:c.1187C>T	ENSP00000404567.1:n.1187C>T
ENST00000456369.5:c.263+4633C>T
NM_001005735.1:c.1426C>T	NP_001005735.1:p.Gln476Ter
NM_001257387.1:c.634C>T	NP_001244316.1:p.Gln212Ter
NM_007194.3:c.1297C>T	NP_009125.1:p.Gln433Ter
NM_145862.2:c.1210C>T	NP_665861.1:p.Gln404Ter
XM_006724114.2:c.817C>T	XP_006724177.1:p.Gln273Ter
XM_006724116.2:c.754C>T	XP_006724179.2:p.Gln252Ter
XM_011529839.1:c.1456C>T	XP_011528141.1:p.Gln486Ter
XM_011529840.1:c.1369C>T	XP_011528142.1:p.Gln457Ter
XM_011529841.1:c.1225C>T	XP_011528143.1:p.Gln409Ter
XM_011529842.1:c.1126C>T	XP_011528144.1:p.Gln376Ter
XM_011529843.1:c.1096C>T	XP_011528145.1:p.Gln366Ter
XM_011529845.1:c.634C>T	XP_011528147.1:p.Gln212Ter
XR_937805.1:n.1456C>T
NM_001349956.1:c.1096C>T	NP_001336885.1:p.Gln366Ter
NM_007194.4:c.1297C>T MANE Select	NP_009125.1:p.Gln433Ter
XM_006724114.3:c.850C>T	XP_006724177.2:p.Gln284Ter
XM_011529839.2:c.1456C>T	XP_011528141.1:p.Gln486Ter
XM_011529840.3:c.1369C>T	XP_011528142.1:p.Gln457Ter
XM_011529842.2:c.1126C>T	XP_011528144.1:p.Gln376Ter
XM_011529845.2:c.634C>T	XP_011528147.1:p.Gln212Ter
XM_017028560.1:c.1420C>T	XP_016884049.1:p.Gln474Ter
XM_017028561.2:c.634C>T	XP_016884050.1:p.Gln212Ter
XM_024452148.1:c.1327C>T	XP_024307916.1:p.Gln443Ter
XM_024452149.1:c.1240C>T	XP_024307917.1:p.Gln414Ter
XR_937805.2:n.1467C>T
NM_001005735.2:c.1426C>T	NP_001005735.1:p.Gln476Ter
NM_001257387.2:c.634C>T	NP_001244316.1:p.Gln212Ter
NM_001349956.2:c.1096C>T	NP_001336885.1:p.Gln366Ter