Canonical Allele Identifier: CA2678089046
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32040229-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040229G>A , CM000668.2:g.32040229G>A GRCh38
NC_000006.11:g.32008006G>A , CM000668.1:g.32008006G>A GRCh37
NC_000006.10:g.32115985G>A NCBI36
NG_007941.2:g.6922G>A
NG_008337.2:g.74146C>T
NG_007941.3:g.6925G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.939+24G>A MANE Select ENSP00000496625.1:n.939+24G>A
ENST00000418967.6:c.939+24G>A ENSP00000408860.2:n.939+24G>A
ENST00000435122.3:c.849+24G>A ENSP00000415043.2:n.849+24G>A
ENST00000479074.5:n.997+24G>A
ENST00000479730.5:n.1055+24G>A
ENST00000483041.5:n.1108+24G>A
ENST00000486063.5:n.919-177G>A
NM_000500.7:c.939+24G>A NP_000491.4:n.939+24G>A
NM_001128590.3:c.849+24G>A NP_001122062.3:n.849+24G>A
XM_011514314.1:c.534+24G>A XP_011512616.1:n.534+24G>A
NM_000500.9:c.939+24G>A MANE Select NP_000491.4:n.939+24G>A
NM_001368143.1:c.534+24G>A NP_001355072.1:n.534+24G>A
NM_001368144.1:c.534+24G>A NP_001355073.1:n.534+24G>A
NM_001128590.4:c.849+24G>A NP_001122062.3:n.849+24G>A
NM_001368143.2:c.534+24G>A NP_001355072.1:n.534+24G>A
NM_001368144.2:c.534+24G>A NP_001355073.1:n.534+24G>A