Canonical Allele Identifier: CA2678088493
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32039673-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039673C>A , CM000668.2:g.32039673C>A GRCh38
NC_000006.11:g.32007450C>A , CM000668.1:g.32007450C>A GRCh37
NC_000006.10:g.32115429C>A NCBI36
NG_007941.2:g.6366C>A
NG_008337.2:g.74702G>T
NG_007941.3:g.6369C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.651+26C>A MANE Select ENSP00000496625.1:n.651+26C>A
ENST00000418967.6:c.651+26C>A ENSP00000408860.2:n.651+26C>A
ENST00000435122.3:c.561+26C>A ENSP00000415043.2:n.561+26C>A
ENST00000462278.1:n.265C>A
ENST00000464325.5:n.572+26C>A
ENST00000466779.5:c.*343+26C>A ENSP00000417321.1:n.*343+26C>A
ENST00000466879.5:n.702+26C>A
ENST00000479074.5:n.709+26C>A
ENST00000479730.5:n.767+26C>A
ENST00000483041.5:n.820+26C>A
ENST00000486063.5:n.831+26C>A
NM_000500.7:c.651+26C>A NP_000491.4:n.651+26C>A
NM_001128590.3:c.561+26C>A NP_001122062.3:n.561+26C>A
XM_011514314.1:c.246+26C>A XP_011512616.1:n.246+26C>A
NM_000500.9:c.651+26C>A MANE Select NP_000491.4:n.651+26C>A
NM_001368143.1:c.246+26C>A NP_001355072.1:n.246+26C>A
NM_001368144.1:c.246+26C>A NP_001355073.1:n.246+26C>A
NM_001128590.4:c.561+26C>A NP_001122062.3:n.561+26C>A
NM_001368143.2:c.246+26C>A NP_001355072.1:n.246+26C>A
NM_001368144.2:c.246+26C>A NP_001355073.1:n.246+26C>A