Canonical Allele Identifier: CA239138
Gene: CYP21A2 HGNC NCBI
COSMIC:
COSM6376659 (not active)
MyVariant.info:
GRCh38 chr6:g.32041127G>A
GRCh37 chr6:g.32008904G>A
Revel Score:
ENST00000418967 0.076
ENST00000435122 0.076
gnomAD v2:
6:32008904 G / A
gnomAD v3:
6:32041127 G / A
gnomAD v4:
chr6-32041127-G-A
Joint Max Group AF 0.0058181 (SAS)
Genomes Max Group AF 0.01489386 (SAS)
Exomes Max Group AF 0.00521875 (SAS)
ClinVar RCV:
RCV000243232
ClinVar Variation:
193596
dbSNP:
6473
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041127G>A , CM000668.2:g.32041127G>A GRCh38
NC_000006.11:g.32008904G>A , CM000668.1:g.32008904G>A GRCh37
NC_000006.10:g.32116883G>A NCBI36
NG_007941.2:g.7820G>A
NG_008337.2:g.73248C>T
NG_007941.3:g.7823G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1481G>A MANE Select ENSP00000496625.1:p.Ser494Asn
ENST00000418967.6:c.1481G>A ENSP00000408860.2:p.Ser494Asn
ENST00000435122.3:c.1391G>A ENSP00000415043.2:p.Ser464Asn
ENST00000479074.5:n.1622G>A
ENST00000479730.5:n.1597G>A
ENST00000483041.5:n.1650G>A
ENST00000486063.5:n.1460G>A
NM_000500.7:c.1481G>A NP_000491.4:p.Ser494Asn
NM_001128590.3:c.1391G>A NP_001122062.3:p.Ser464Asn
XM_011514314.1:c.1076G>A XP_011512616.1:p.Ser359Asn
NM_000500.9:c.1481G>A MANE Select NP_000491.4:p.Ser494Asn
NM_001368143.1:c.1076G>A NP_001355072.1:p.Ser359Asn
NM_001368144.1:c.1076G>A NP_001355073.1:p.Ser359Asn
NM_001128590.4:c.1391G>A NP_001122062.3:p.Ser464Asn
NM_001368143.2:c.1076G>A NP_001355072.1:p.Ser359Asn
NM_001368144.2:c.1076G>A NP_001355073.1:p.Ser359Asn
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