Canonical Allele Identifier: CA2678088481
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32039668-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039668C>A , CM000668.2:g.32039668C>A GRCh38
NC_000006.11:g.32007445C>A , CM000668.1:g.32007445C>A GRCh37
NC_000006.10:g.32115424C>A NCBI36
NG_007941.2:g.6361C>A
NG_008337.2:g.74707G>T
NG_007941.3:g.6364C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.651+21C>A MANE Select ENSP00000496625.1:n.651+21C>A
ENST00000418967.6:c.651+21C>A ENSP00000408860.2:n.651+21C>A
ENST00000435122.3:c.561+21C>A ENSP00000415043.2:n.561+21C>A
ENST00000462278.1:n.260C>A
ENST00000464325.5:n.572+21C>A
ENST00000466779.5:c.*343+21C>A ENSP00000417321.1:n.*343+21C>A
ENST00000466879.5:n.702+21C>A
ENST00000479074.5:n.709+21C>A
ENST00000479730.5:n.767+21C>A
ENST00000483041.5:n.820+21C>A
ENST00000486063.5:n.831+21C>A
NM_000500.7:c.651+21C>A NP_000491.4:n.651+21C>A
NM_001128590.3:c.561+21C>A NP_001122062.3:n.561+21C>A
XM_011514314.1:c.246+21C>A XP_011512616.1:n.246+21C>A
NM_000500.9:c.651+21C>A MANE Select NP_000491.4:n.651+21C>A
NM_001368143.1:c.246+21C>A NP_001355072.1:n.246+21C>A
NM_001368144.1:c.246+21C>A NP_001355073.1:n.246+21C>A
NM_001128590.4:c.561+21C>A NP_001122062.3:n.561+21C>A
NM_001368143.2:c.246+21C>A NP_001355072.1:n.246+21C>A
NM_001368144.2:c.246+21C>A NP_001355073.1:n.246+21C>A