Canonical Allele Identifier: CA2678088357
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs2151870658
gnomAD v4: 6-32038687-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038687C>T , CM000668.2:g.32038687C>T GRCh38
NC_000006.11:g.32006464C>T , CM000668.1:g.32006464C>T GRCh37
NC_000006.10:g.32114443C>T NCBI36
NG_007941.2:g.5380C>T
NG_007941.3:g.5383C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.203-35C>T MANE Select ENSP00000496625.1:n.203-35C>T
ENST00000418967.6:c.203-35C>T ENSP00000408860.2:n.203-35C>T
ENST00000435122.3:c.202+63C>T ENSP00000415043.2:n.202+63C>T
ENST00000464325.5:n.105C>T
ENST00000466779.5:c.203-35C>T ENSP00000417321.1:n.203-35C>T
ENST00000469053.5:c.202+63C>T ENSP00000418104.1:n.202+63C>T
ENST00000471671.4:c.203-35C>T ENSP00000418561.1:n.203-35C>T
ENST00000478281.5:c.203-35C>T ENSP00000419572.1:n.203-35C>T
ENST00000479074.5:n.261-35C>T
ENST00000479730.5:n.323C>T
ENST00000480027.1:n.256-35C>T
ENST00000483041.5:n.318C>T
ENST00000486063.5:n.348C>T
ENST00000488465.1:n.211-35C>T
NM_000500.7:c.203-35C>T NP_000491.4:n.203-35C>T
NM_001128590.3:c.202+63C>T NP_001122062.3:n.202+63C>T
XM_011514314.1:c.-222-35C>T XP_011512616.1:n.-222-35C>T
NM_000500.9:c.203-35C>T MANE Select NP_000491.4:n.203-35C>T
NM_001368143.1:c.-222-35C>T NP_001355072.1:n.-222-35C>T
NM_001368144.1:c.-133+63C>T NP_001355073.1:n.-133+63C>T
NM_001128590.4:c.202+63C>T NP_001122062.3:n.202+63C>T
NM_001368143.2:c.-222-35C>T NP_001355072.1:n.-222-35C>T
NM_001368144.2:c.-133+63C>T NP_001355073.1:n.-133+63C>T