Canonical Allele Identifier: CA9775246
Gene: OVOL2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.18041718G>T
GRCh37 chr20:g.18022362G>T
gnomAD v2:
20:18022362 G / T
gnomAD v3:
20:18041718 G / T
gnomAD v4:
chr20-18041718-G-T
Joint Max Group AF 0.07328302 (NFE)
Genomes Max Group AF 0.07084479 (AFR)
Exomes Max Group AF 0.07367242 (NFE)
ClinVar RCV:
RCV002882233
ClinVar Variation:
2037537
dbSNP:
6111803
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18041718G>T , CM000682.2:g.18041718G>T GRCh38
NC_000020.10:g.18022362G>T , CM000682.1:g.18022362G>T GRCh37
NC_000020.9:g.17970362G>T NCBI36
NG_046859.1:g.22471C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000278780.7:c.327C>A MANE Select ENSP00000278780.5:p.Thr109=
ENST00000278780.6:c.327C>A ENSP00000278780.5:p.Thr109=
ENST00000462208.1:n.105C>A
ENST00000483661.5:n.388C>A
ENST00000486776.5:n.115C>A
ENST00000494030.1:n.115C>A
NM_001303461.1:c.-70C>A NP_001290390.1:n.-70C>A
NM_001303462.1:c.-70C>A NP_001290391.1:n.-70C>A
NM_021220.3:c.327C>A NP_067043.2:p.Thr109=
NM_021220.4:c.327C>A MANE Select NP_067043.2:p.Thr109=
Search 100 bp 5'
Search 100 bp 3'