Canonical Allele Identifier: CA363503254

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007230T>G (hg19) ; chr6:g.32039453T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039453T>G , CM000668.2:g.32039453T>G	GRCh38
NC_000006.11:g.32007230T>G , CM000668.1:g.32007230T>G	GRCh37
NC_000006.10:g.32115209T>G	NCBI36
NG_007941.2:g.6146T>G
NG_008337.2:g.74922A>C
NG_007941.3:g.6149T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.545T>G MANE Select	ENSP00000496625.1:p.Ile182Ser
ENST00000418967.6:c.545T>G	ENSP00000408860.2:p.Ile182Ser
ENST00000435122.3:c.455T>G	ENSP00000415043.2:p.Ile152Ser
ENST00000462278.1:n.133T>G
ENST00000464325.5:n.466T>G
ENST00000466779.5:c.*237T>G	ENSP00000417321.1:n.*237T>G
ENST00000466879.5:n.596T>G
ENST00000469053.5:c.*237T>G	ENSP00000418104.1:n.*237T>G
ENST00000471671.4:c.545T>G	ENSP00000418561.1:p.Ile182Ser
ENST00000479074.5:n.603T>G
ENST00000479730.5:n.700T>G
ENST00000483041.5:n.714T>G
ENST00000486063.5:n.725T>G
ENST00000488465.1:n.553T>G
NM_000500.7:c.545T>G	NP_000491.4:p.Ile182Ser
NM_001128590.3:c.455T>G	NP_001122062.3:p.Ile152Ser
XM_011514314.1:c.140T>G	XP_011512616.1:p.Ile47Ser
NM_000500.9:c.545T>G MANE Select	NP_000491.4:p.Ile182Ser
NM_001368143.1:c.140T>G	NP_001355072.1:p.Ile47Ser
NM_001368144.1:c.140T>G	NP_001355073.1:p.Ile47Ser
NM_001128590.4:c.455T>G	NP_001122062.3:p.Ile152Ser
NM_001368143.2:c.140T>G	NP_001355072.1:p.Ile47Ser
NM_001368144.2:c.140T>G	NP_001355073.1:p.Ile47Ser