Canonical Allele Identifier: CA129645
Gene: CYP21A2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32040072G>C
GRCh38 chr6:g.32040072_32040073delinsCC
GRCh37 chr6:g.32007849G>C
GRCh37 chr6:g.32007849_32007850delinsCC
Revel Score:
ENST00000418967 0.064
ENST00000435122 0.064
gnomAD v2:
6:32007849 G / C
gnomAD v3:
6:32040072 G / C
gnomAD v4:
chr6-32040072-G-C
Joint Max Group AF 0.24173024 (SAS)
Genomes Max Group AF 0.21617768 (AFR)
Exomes Max Group AF 0.24357723 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040072G>C , CM000668.2:g.32040072G>C GRCh38
NC_000006.11:g.32007849G>C , CM000668.1:g.32007849G>C GRCh37
NC_000006.10:g.32115828G>C NCBI36
NG_007941.2:g.6765G>C
NG_008337.2:g.74303C>G
NG_007941.3:g.6768G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.806G>C MANE Select ENSP00000496625.1:p.Ser269Thr
ENST00000418967.6:c.806G>C ENSP00000408860.2:p.Ser269Thr
ENST00000435122.3:c.716G>C ENSP00000415043.2:p.Ser239Thr
ENST00000479074.5:n.864G>C
ENST00000479730.5:n.922G>C
ENST00000483041.5:n.975G>C
ENST00000486063.5:n.918+237G>C
NM_000500.7:c.806G>C NP_000491.4:p.Ser269Thr
NM_001128590.3:c.716G>C NP_001122062.3:p.Ser239Thr
XM_011514314.1:c.401G>C XP_011512616.1:p.Ser134Thr
NM_000500.9:c.806G>C MANE Select NP_000491.4:p.Ser269Thr
NM_001368143.1:c.401G>C NP_001355072.1:p.Ser134Thr
NM_001368144.1:c.401G>C NP_001355073.1:p.Ser134Thr
NM_001128590.4:c.716G>C NP_001122062.3:p.Ser239Thr
NM_001368143.2:c.401G>C NP_001355072.1:p.Ser134Thr
NM_001368144.2:c.401G>C NP_001355073.1:p.Ser134Thr
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