Canonical Allele Identifier: CA14937625
Gene: CHEK2 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.28741882C>T
GRCh37 chr22:g.29137870C>T
gnomAD v2:
22:29137870 C / T
gnomAD v3:
22:28741882 C / T
gnomAD v4:
chr22-28741882-C-T
Joint Max Group AF 0.27817288 (SAS)
Genomes Max Group AF 0.27789413 (SAS)
Exomes Max Group AF 0.27706911 (SAS)
ClinVar RCV:
RCV001516877
RCV001712926
ClinVar Variation:
1167537
dbSNP:
2236141
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28741882C>T , CM000684.2:g.28741882C>T GRCh38
NC_000022.10:g.29137870C>T , CM000684.1:g.29137870C>T GRCh37
NC_000022.9:g.27467870C>T NCBI36
NG_008150.1:g.4953G>A
NG_008150.2:g.4985G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000416671.5:c.-120G>A ENSP00000402225.1:n.-120G>A
XM_011529845.1:c.-458G>A XP_011528147.1:n.-458G>A
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