Canonical Allele Identifier: CA5617178
Gene: CYP2C9 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.94949217A>G
GRCh37 chr10:g.96708974A>G
Revel Score:
ENST00000545448 0.105
ENST00000260682 (MANE Select) 0.105
gnomAD v2:
10:96708974 A / G
gnomAD v3:
10:94949217 A / G
gnomAD v4:
chr10-94949217-A-G
Joint Max Group AF 0.07343825 (AFR)
Genomes Max Group AF 0.07303441 (AFR)
Exomes Max Group AF 0.07243143 (AFR)
ClinVar RCV:
RCV000952677
ClinVar Variation:
773002
dbSNP:
2256871
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94949217A>G , CM000672.2:g.94949217A>G GRCh38
NC_000010.10:g.96708974A>G , CM000672.1:g.96708974A>G GRCh37
NC_000010.9:g.96698964A>G NCBI36
NG_008385.1:g.15560A>G
NG_008385.2:g.16060A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260682.8:c.752A>G MANE Select ENSP00000260682.6:p.His251Arg
ENST00000643112.1:c.752A>G ENSP00000496202.1:p.His251Arg
ENST00000260682.6:c.752A>G ENSP00000260682.6:p.His251Arg
ENST00000473496.1:n.523A>G
NM_000771.3:c.752A>G NP_000762.2:p.His251Arg
NM_000771.4:c.752A>G MANE Select NP_000762.2:p.His251Arg
Search 100 bp 5'
Search 100 bp 3'