Canonical Allele Identifier: CA2678088329
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038648-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038648C>T , CM000668.2:g.32038648C>T GRCh38
NC_000006.11:g.32006425C>T , CM000668.1:g.32006425C>T GRCh37
NC_000006.10:g.32114404C>T NCBI36
NG_007941.2:g.5341C>T
NG_007941.3:g.5344C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.202+24C>T MANE Select ENSP00000496625.1:n.202+24C>T
ENST00000418967.6:c.202+24C>T ENSP00000408860.2:n.202+24C>T
ENST00000435122.3:c.202+24C>T ENSP00000415043.2:n.202+24C>T
ENST00000464325.5:n.66C>T
ENST00000466779.5:c.202+24C>T ENSP00000417321.1:n.202+24C>T
ENST00000469053.5:c.202+24C>T ENSP00000418104.1:n.202+24C>T
ENST00000471671.4:c.202+24C>T ENSP00000418561.1:n.202+24C>T
ENST00000478281.5:c.202+24C>T ENSP00000419572.1:n.202+24C>T
ENST00000479074.5:n.260+24C>T
ENST00000479730.5:n.284C>T
ENST00000480027.1:n.255+24C>T
ENST00000483041.5:n.279C>T
ENST00000486063.5:n.309C>T
ENST00000488465.1:n.210+24C>T
NM_000500.7:c.202+24C>T NP_000491.4:n.202+24C>T
NM_001128590.3:c.202+24C>T NP_001122062.3:n.202+24C>T
XM_011514314.1:c.-223+24C>T XP_011512616.1:n.-223+24C>T
NM_000500.9:c.202+24C>T MANE Select NP_000491.4:n.202+24C>T
NM_001368143.1:c.-223+24C>T NP_001355072.1:n.-223+24C>T
NM_001368144.1:c.-133+24C>T NP_001355073.1:n.-133+24C>T
NM_001128590.4:c.202+24C>T NP_001122062.3:n.202+24C>T
NM_001368143.2:c.-223+24C>T NP_001355072.1:n.-223+24C>T
NM_001368144.2:c.-133+24C>T NP_001355073.1:n.-133+24C>T