Canonical Allele Identifier: CA2499344021
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039904A>G , CM000668.2:g.32039904A>G GRCh38
NC_000006.11:g.32007681A>G , CM000668.1:g.32007681A>G GRCh37
NC_000006.10:g.32115660A>G NCBI36
NG_007941.2:g.6597A>G
NG_008337.2:g.74471T>C
NG_007941.3:g.6600A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.738+69A>G MANE Select ENSP00000496625.1:n.738+69A>G
ENST00000418967.6:c.738+69A>G ENSP00000408860.2:n.738+69A>G
ENST00000435122.3:c.648+69A>G ENSP00000415043.2:n.648+69A>G
ENST00000462278.1:n.496A>G
ENST00000479074.5:n.796+69A>G
ENST00000479730.5:n.854+69A>G
ENST00000483041.5:n.907+69A>G
ENST00000486063.5:n.918+69A>G
NM_000500.7:c.738+69A>G NP_000491.4:n.738+69A>G
NM_001128590.3:c.648+69A>G NP_001122062.3:n.648+69A>G
XM_011514314.1:c.333+69A>G XP_011512616.1:n.333+69A>G
NM_000500.9:c.738+69A>G MANE Select NP_000491.4:n.738+69A>G
NM_001368143.1:c.333+69A>G NP_001355072.1:n.333+69A>G
NM_001368144.1:c.333+69A>G NP_001355073.1:n.333+69A>G
NM_001128590.4:c.648+69A>G NP_001122062.3:n.648+69A>G
NM_001368143.2:c.333+69A>G NP_001355072.1:n.333+69A>G
NM_001368144.2:c.333+69A>G NP_001355073.1:n.333+69A>G