Canonical Allele Identifier: CA915944186
Gene: CYP21A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 800586
ClinVar RCV Id: RCV000984564
dbSNP Id: rs1582301787

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038979C>G , CM000668.2:g.32038979C>G GRCh38
NC_000006.11:g.32006756C>G , CM000668.1:g.32006756C>G GRCh37
NC_000006.10:g.32114735C>G NCBI36
NG_007941.2:g.5672C>G
NG_007941.3:g.5675C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.293-115C>G MANE Select ENSP00000496625.1:n.293-115C>G
ENST00000418967.6:c.293-115C>G ENSP00000408860.2:n.293-115C>G
ENST00000435122.3:c.203-115C>G ENSP00000415043.2:n.203-115C>G
ENST00000464325.5:n.230-131C>G
ENST00000466779.5:c.293-96C>G ENSP00000417321.1:n.293-96C>G
ENST00000466879.5:n.229C>G
ENST00000469053.5:c.203-96C>G ENSP00000418104.1:n.203-96C>G
ENST00000471671.4:c.293-115C>G ENSP00000418561.1:n.293-115C>G
ENST00000478281.5:c.293-82C>G ENSP00000419572.1:n.293-82C>G
ENST00000479074.5:n.351-115C>G
ENST00000479730.5:n.448-115C>G
ENST00000480027.1:n.513C>G
ENST00000483041.5:n.443-96C>G
ENST00000486063.5:n.473-115C>G
ENST00000488465.1:n.301-115C>G
NM_000500.7:c.293-115C>G NP_000491.4:n.293-115C>G
NM_001128590.3:c.203-115C>G NP_001122062.3:n.203-115C>G
XM_011514314.1:c.-132-96C>G XP_011512616.1:n.-132-96C>G
NM_000500.9:c.293-115C>G MANE Select NP_000491.4:n.293-115C>G
NM_001368143.1:c.-132-96C>G NP_001355072.1:n.-132-96C>G
NM_001368144.1:c.-132-96C>G NP_001355073.1:n.-132-96C>G
NM_001128590.4:c.203-115C>G NP_001122062.3:n.203-115C>G
NM_001368143.2:c.-132-96C>G NP_001355072.1:n.-132-96C>G
NM_001368144.2:c.-132-96C>G NP_001355073.1:n.-132-96C>G