Canonical Allele Identifier: CA1619397180
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039820G= , CM000668.2:g.32039820G= GRCh38
NC_000006.11:g.32007597G= , CM000668.1:g.32007597G= GRCh37
NC_000006.10:g.32115576G= NCBI36
NG_007941.2:g.6513G=
NG_008337.2:g.74555C=
NG_007941.3:g.6516G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.723G= MANE Select ENSP00000496625.1:p.Gln241=
ENST00000418967.6:c.723G= ENSP00000408860.2:p.Gln241=
ENST00000435122.3:c.633G= ENSP00000415043.2:p.Gln211=
ENST00000462278.1:n.412G=
ENST00000466779.5:c.*415G= ENSP00000417321.1:n.*415G=
ENST00000466879.5:n.774G=
ENST00000479074.5:n.781G=
ENST00000479730.5:n.839G=
ENST00000483041.5:n.892G=
ENST00000486063.5:n.903G=
NM_000500.7:c.723G= NP_000491.4:p.Gln241=
NM_001128590.3:c.633G= NP_001122062.3:p.Gln211=
XM_011514314.1:c.318G= XP_011512616.1:p.Gln106=
NM_000500.9:c.723G= MANE Select NP_000491.4:p.Gln241=
NM_001368143.1:c.318G= NP_001355072.1:p.Gln106=
NM_001368144.1:c.318G= NP_001355073.1:p.Gln106=
NM_001128590.4:c.633G= NP_001122062.3:p.Gln211=
NM_001368143.2:c.318G= NP_001355072.1:p.Gln106=
NM_001368144.2:c.318G= NP_001355073.1:p.Gln106=