Canonical Allele Identifier: CA1619397173
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039811G= , CM000668.2:g.32039811G= GRCh38
NC_000006.11:g.32007588G= , CM000668.1:g.32007588G= GRCh37
NC_000006.10:g.32115567G= NCBI36
NG_007941.2:g.6504G=
NG_008337.2:g.74564C=
NG_007941.3:g.6507G=

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.714G= MANE Select ENSP00000496625.1:p.Val238=
ENST00000418967.6:c.714G= ENSP00000408860.2:p.Val238=
ENST00000435122.3:c.624G= ENSP00000415043.2:p.Val208=
ENST00000462278.1:n.403G=
ENST00000466779.5:c.*406G= ENSP00000417321.1:n.*406G=
ENST00000466879.5:n.765G=
ENST00000479074.5:n.772G=
ENST00000479730.5:n.830G=
ENST00000483041.5:n.883G=
ENST00000486063.5:n.894G=
NM_000500.7:c.714G= NP_000491.4:p.Val238=
NM_001128590.3:c.624G= NP_001122062.3:p.Val208=
XM_011514314.1:c.309G= XP_011512616.1:p.Val103=
NM_000500.9:c.714G= MANE Select NP_000491.4:p.Val238=
NM_001368143.1:c.309G= NP_001355072.1:p.Val103=
NM_001368144.1:c.309G= NP_001355073.1:p.Val103=
NM_001128590.4:c.624G= NP_001122062.3:p.Val208=
NM_001368143.2:c.309G= NP_001355072.1:p.Val103=
NM_001368144.2:c.309G= NP_001355073.1:p.Val103=