Canonical Allele Identifier: CA1619397185
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039835G= , CM000668.2:g.32039835G= GRCh38
NC_000006.11:g.32007612G= , CM000668.1:g.32007612G= GRCh37
NC_000006.10:g.32115591G= NCBI36
NG_007941.2:g.6528G=
NG_008337.2:g.74540C=
NG_007941.3:g.6531G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.738G= MANE Select ENSP00000496625.1:p.Lys246=
ENST00000418967.6:c.738G= ENSP00000408860.2:p.Lys246=
ENST00000435122.3:c.648G= ENSP00000415043.2:p.Lys216=
ENST00000462278.1:n.427G=
ENST00000479074.5:n.796G=
ENST00000479730.5:n.854G=
ENST00000483041.5:n.907G=
ENST00000486063.5:n.918G=
NM_000500.7:c.738G= NP_000491.4:p.Lys246=
NM_001128590.3:c.648G= NP_001122062.3:p.Lys216=
XM_011514314.1:c.333G= XP_011512616.1:p.Lys111=
NM_000500.9:c.738G= MANE Select NP_000491.4:p.Lys246=
NM_001368143.1:c.333G= NP_001355072.1:p.Lys111=
NM_001368144.1:c.333G= NP_001355073.1:p.Lys111=
NM_001128590.4:c.648G= NP_001122062.3:p.Lys216=
NM_001368143.2:c.333G= NP_001355072.1:p.Lys111=
NM_001368144.2:c.333G= NP_001355073.1:p.Lys111=