Canonical Allele Identifier: CA449729530
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32007829C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040052C>T , CM000668.2:g.32040052C>T GRCh38
NC_000006.11:g.32007829C>T , CM000668.1:g.32007829C>T GRCh37
NC_000006.10:g.32115808C>T NCBI36
NG_007941.2:g.6745C>T
NG_008337.2:g.74323G>A
NG_007941.3:g.6748C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.786C>T MANE Select ENSP00000496625.1:p.Leu262=
ENST00000418967.6:c.786C>T ENSP00000408860.2:p.Leu262=
ENST00000435122.3:c.696C>T ENSP00000415043.2:p.Leu232=
ENST00000479074.5:n.844C>T
ENST00000479730.5:n.902C>T
ENST00000483041.5:n.955C>T
ENST00000486063.5:n.918+217C>T
NM_000500.7:c.786C>T NP_000491.4:p.Leu262=
NM_001128590.3:c.696C>T NP_001122062.3:p.Leu232=
XM_011514314.1:c.381C>T XP_011512616.1:p.Leu127=
NM_000500.9:c.786C>T MANE Select NP_000491.4:p.Leu262=
NM_001368143.1:c.381C>T NP_001355072.1:p.Leu127=
NM_001368144.1:c.381C>T NP_001355073.1:p.Leu127=
NM_001128590.4:c.696C>T NP_001122062.3:p.Leu232=
NM_001368143.2:c.381C>T NP_001355072.1:p.Leu127=
NM_001368144.2:c.381C>T NP_001355073.1:p.Leu127=