Canonical Allele Identifier: CA449818589
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32007534C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039757C>G , CM000668.2:g.32039757C>G GRCh38
NC_000006.11:g.32007534C>G , CM000668.1:g.32007534C>G GRCh37
NC_000006.10:g.32115513C>G NCBI36
NG_007941.2:g.6450C>G
NG_008337.2:g.74618G>C
NG_007941.3:g.6453C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.660C>G MANE Select ENSP00000496625.1:p.Pro220=
ENST00000418967.6:c.660C>G ENSP00000408860.2:p.Pro220=
ENST00000435122.3:c.570C>G ENSP00000415043.2:p.Pro190=
ENST00000462278.1:n.349C>G
ENST00000466779.5:c.*352C>G ENSP00000417321.1:n.*352C>G
ENST00000466879.5:n.711C>G
ENST00000479074.5:n.718C>G
ENST00000479730.5:n.776C>G
ENST00000483041.5:n.829C>G
ENST00000486063.5:n.840C>G
NM_000500.7:c.660C>G NP_000491.4:p.Pro220=
NM_001128590.3:c.570C>G NP_001122062.3:p.Pro190=
XM_011514314.1:c.255C>G XP_011512616.1:p.Pro85=
NM_000500.9:c.660C>G MANE Select NP_000491.4:p.Pro220=
NM_001368143.1:c.255C>G NP_001355072.1:p.Pro85=
NM_001368144.1:c.255C>G NP_001355073.1:p.Pro85=
NM_001128590.4:c.570C>G NP_001122062.3:p.Pro190=
NM_001368143.2:c.255C>G NP_001355072.1:p.Pro85=
NM_001368144.2:c.255C>G NP_001355073.1:p.Pro85=