Canonical Allele Identifier: CA411096804

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 530218
• ClinVar RCV Id: RCV000635959
• dbSNP Id: rs1555913769
• MyVariant Identifiers: chr22:g.29091773A>G (hg19) ; chr22:g.28695785A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695785A>G , CM000684.2:g.28695785A>G	GRCh38
NC_000022.10:g.29091773A>G , CM000684.1:g.29091773A>G	GRCh37
NC_000022.9:g.27421773A>G	NCBI36
NG_008150.1:g.51050T>C
NG_008150.2:g.51082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-543T>C	ENSP00000518557.1:n.1009-543T>C
ENST00000402731.6:c.983T>C	ENSP00000384835.2:p.Val328Ala
ENST00000404276.6:c.1184T>C MANE Select	ENSP00000385747.1:p.Val395Ala
ENST00000425190.7:c.521T>C	ENSP00000390244.2:p.Val174Ala
ENST00000464581.6:c.524T>C	ENSP00000483777.2:p.Val175Ala
ENST00000648295.1:n.736T>C
ENST00000649563.1:c.521T>C	ENSP00000496928.1:p.Val174Ala
ENST00000650281.1:c.1184T>C	ENSP00000497000.1:p.Val395Ala
ENST00000328354.10:c.1184T>C	ENSP00000329178.6:p.Val395Ala
ENST00000348295.7:c.1097T>C	ENSP00000329012.5:p.Val366Ala
ENST00000382580.6:c.1313T>C	ENSP00000372023.2:p.Val438Ala
ENST00000402731.5:c.1097T>C	ENSP00000384835.1:p.Val366Ala
ENST00000403642.5:c.911T>C	ENSP00000384919.1:p.Val304Ala
ENST00000404276.5:c.1184T>C	ENSP00000385747.1:p.Val395Ala
ENST00000405598.5:c.1184T>C	ENSP00000386087.1:p.Val395Ala
ENST00000416671.5:c.*674T>C	ENSP00000402225.1:n.*674T>C
ENST00000417588.5:c.1093T>C	ENSP00000412901.1:n.1093T>C
ENST00000433728.5:c.1122T>C	ENSP00000404400.1:n.1122T>C
ENST00000434810.5:c.415T>C
ENST00000448511.5:c.1074T>C	ENSP00000404567.1:n.1074T>C
ENST00000456369.5:c.263+4053T>C
NM_001005735.1:c.1313T>C	NP_001005735.1:p.Val438Ala
NM_001257387.1:c.521T>C	NP_001244316.1:p.Val174Ala
NM_007194.3:c.1184T>C	NP_009125.1:p.Val395Ala
NM_145862.2:c.1097T>C	NP_665861.1:p.Val366Ala
XM_006724114.2:c.704T>C	XP_006724177.1:p.Val235Ala
XM_006724116.2:c.641T>C	XP_006724179.2:p.Val214Ala
XM_011529839.1:c.1343T>C	XP_011528141.1:p.Val448Ala
XM_011529840.1:c.1256T>C	XP_011528142.1:p.Val419Ala
XM_011529841.1:c.1112T>C	XP_011528143.1:p.Val371Ala
XM_011529842.1:c.1013T>C	XP_011528144.1:p.Val338Ala
XM_011529843.1:c.983T>C	XP_011528145.1:p.Val328Ala
XM_011529845.1:c.521T>C	XP_011528147.1:p.Val174Ala
XR_937805.1:n.1343T>C
NM_001349956.1:c.983T>C	NP_001336885.1:p.Val328Ala
NM_007194.4:c.1184T>C MANE Select	NP_009125.1:p.Val395Ala
XM_006724114.3:c.737T>C	XP_006724177.2:p.Val246Ala
XM_011529839.2:c.1343T>C	XP_011528141.1:p.Val448Ala
XM_011529840.3:c.1256T>C	XP_011528142.1:p.Val419Ala
XM_011529842.2:c.1013T>C	XP_011528144.1:p.Val338Ala
XM_011529845.2:c.521T>C	XP_011528147.1:p.Val174Ala
XM_017028560.1:c.1307T>C	XP_016884049.1:p.Val436Ala
XM_017028561.2:c.521T>C	XP_016884050.1:p.Val174Ala
XM_024452148.1:c.1214T>C	XP_024307916.1:p.Val405Ala
XM_024452149.1:c.1127T>C	XP_024307917.1:p.Val376Ala
XR_937805.2:n.1354T>C
NM_001005735.2:c.1313T>C	NP_001005735.1:p.Val438Ala
NM_001257387.2:c.521T>C	NP_001244316.1:p.Val174Ala
NM_001349956.2:c.983T>C	NP_001336885.1:p.Val328Ala