Canonical Allele Identifier: CA14937626
Gene: CHEK2 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.28741956G>C
GRCh37 chr22:g.29137944G>C
gnomAD v2:
22:29137944 G / C
gnomAD v3:
22:28741956 G / C
gnomAD v4:
chr22-28741956-G-C
Joint Max Group AF 0.70667892 (AFR)
Genomes Max Group AF 0.70437231 (AFR)
Exomes Max Group AF 0.70479137 (AFR)
ClinVar Allele:
1258285
ClinVar RCV:
RCV001685704
ClinVar Variation:
1268378
dbSNP:
2236142
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28741956G>C , CM000684.2:g.28741956G>C GRCh38
NC_000022.10:g.29137944G>C , CM000684.1:g.29137944G>C GRCh37
NC_000022.9:g.27467944G>C NCBI36
NG_008150.1:g.4879C>G
NG_008150.2:g.4911C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000416671.5:c.-194C>G ENSP00000402225.1:n.-194C>G
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