Canonical Allele Identifier: CA2678088593
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32039744-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039744C>G , CM000668.2:g.32039744C>G GRCh38
NC_000006.11:g.32007521C>G , CM000668.1:g.32007521C>G GRCh37
NC_000006.10:g.32115500C>G NCBI36
NG_007941.2:g.6437C>G
NG_008337.2:g.74631G>C
NG_007941.3:g.6440C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.652-5C>G MANE Select ENSP00000496625.1:n.652-5C>G
ENST00000418967.6:c.652-5C>G ENSP00000408860.2:n.652-5C>G
ENST00000435122.3:c.562-5C>G ENSP00000415043.2:n.562-5C>G
ENST00000462278.1:n.336C>G
ENST00000464325.5:n.573-5C>G
ENST00000466779.5:c.*344-5C>G ENSP00000417321.1:n.*344-5C>G
ENST00000466879.5:n.703-5C>G
ENST00000479074.5:n.710-5C>G
ENST00000479730.5:n.768-5C>G
ENST00000483041.5:n.821-5C>G
ENST00000486063.5:n.832-5C>G
NM_000500.7:c.652-5C>G NP_000491.4:n.652-5C>G
NM_001128590.3:c.562-5C>G NP_001122062.3:n.562-5C>G
XM_011514314.1:c.247-5C>G XP_011512616.1:n.247-5C>G
NM_000500.9:c.652-5C>G MANE Select NP_000491.4:n.652-5C>G
NM_001368143.1:c.247-5C>G NP_001355072.1:n.247-5C>G
NM_001368144.1:c.247-5C>G NP_001355073.1:n.247-5C>G
NM_001128590.4:c.562-5C>G NP_001122062.3:n.562-5C>G
NM_001368143.2:c.247-5C>G NP_001355072.1:n.247-5C>G
NM_001368144.2:c.247-5C>G NP_001355073.1:n.247-5C>G