Canonical Allele Identifier: CA10583901

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 240729
• ClinVar RCV Id: RCV001467033 ; RCV003584579
• dbSNP Id: rs878854911
• MyVariant Identifiers: chr22:g.29091793G>A (hg19) ; chr22:g.28695805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695805G>A , CM000684.2:g.28695805G>A	GRCh38
NC_000022.10:g.29091793G>A , CM000684.1:g.29091793G>A	GRCh37
NC_000022.9:g.27421793G>A	NCBI36
NG_008150.1:g.51030C>T
NG_008150.2:g.51062C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-563C>T	ENSP00000518557.1:n.1009-563C>T
ENST00000402731.6:c.963C>T	ENSP00000384835.2:p.Pro321=
ENST00000404276.6:c.1164C>T MANE Select	ENSP00000385747.1:p.Pro388=
ENST00000425190.7:c.501C>T	ENSP00000390244.2:p.Pro167=
ENST00000464581.6:c.504C>T	ENSP00000483777.2:p.Pro168=
ENST00000648295.1:n.716C>T
ENST00000649563.1:c.501C>T	ENSP00000496928.1:p.Pro167=
ENST00000650281.1:c.1164C>T	ENSP00000497000.1:p.Pro388=
ENST00000328354.10:c.1164C>T	ENSP00000329178.6:p.Pro388=
ENST00000348295.7:c.1077C>T	ENSP00000329012.5:p.Pro359=
ENST00000382580.6:c.1293C>T	ENSP00000372023.2:p.Pro431=
ENST00000402731.5:c.1077C>T	ENSP00000384835.1:p.Pro359=
ENST00000403642.5:c.891C>T	ENSP00000384919.1:p.Pro297=
ENST00000404276.5:c.1164C>T	ENSP00000385747.1:p.Pro388=
ENST00000405598.5:c.1164C>T	ENSP00000386087.1:p.Pro388=
ENST00000416671.5:c.*654C>T	ENSP00000402225.1:n.*654C>T
ENST00000417588.5:c.1073C>T	ENSP00000412901.1:n.1073C>T
ENST00000433728.5:c.1102C>T	ENSP00000404400.1:n.1102C>T
ENST00000434810.5:c.395C>T
ENST00000448511.5:c.1054C>T	ENSP00000404567.1:n.1054C>T
ENST00000456369.5:c.263+4033C>T
NM_001005735.1:c.1293C>T	NP_001005735.1:p.Pro431=
NM_001257387.1:c.501C>T	NP_001244316.1:p.Pro167=
NM_007194.3:c.1164C>T	NP_009125.1:p.Pro388=
NM_145862.2:c.1077C>T	NP_665861.1:p.Pro359=
XM_006724114.2:c.684C>T	XP_006724177.1:p.Pro228=
XM_006724116.2:c.621C>T	XP_006724179.2:p.Pro207=
XM_011529839.1:c.1323C>T	XP_011528141.1:p.Pro441=
XM_011529840.1:c.1236C>T	XP_011528142.1:p.Pro412=
XM_011529841.1:c.1092C>T	XP_011528143.1:p.Pro364=
XM_011529842.1:c.993C>T	XP_011528144.1:p.Pro331=
XM_011529843.1:c.963C>T	XP_011528145.1:p.Pro321=
XM_011529845.1:c.501C>T	XP_011528147.1:p.Pro167=
XR_937805.1:n.1323C>T
XR_937806.1:n.1231C>T
NM_001349956.1:c.963C>T	NP_001336885.1:p.Pro321=
NM_007194.4:c.1164C>T MANE Select	NP_009125.1:p.Pro388=
XM_006724114.3:c.717C>T	XP_006724177.2:p.Pro239=
XM_011529839.2:c.1323C>T	XP_011528141.1:p.Pro441=
XM_011529840.3:c.1236C>T	XP_011528142.1:p.Pro412=
XM_011529842.2:c.993C>T	XP_011528144.1:p.Pro331=
XM_011529845.2:c.501C>T	XP_011528147.1:p.Pro167=
XM_017028560.1:c.1287C>T	XP_016884049.1:p.Pro429=
XM_017028561.2:c.501C>T	XP_016884050.1:p.Pro167=
XM_024452148.1:c.1194C>T	XP_024307916.1:p.Pro398=
XM_024452149.1:c.1107C>T	XP_024307917.1:p.Pro369=
XR_937805.2:n.1334C>T
XR_937806.2:n.1247C>T
NM_001005735.2:c.1293C>T	NP_001005735.1:p.Pro431=
NM_001257387.2:c.501C>T	NP_001244316.1:p.Pro167=
NM_001349956.2:c.963C>T	NP_001336885.1:p.Pro321=