Canonical Allele Identifier: CA363505113

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007572A>G (hg19) ; chr6:g.32039795A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039795A>G , CM000668.2:g.32039795A>G	GRCh38
NC_000006.11:g.32007572A>G , CM000668.1:g.32007572A>G	GRCh37
NC_000006.10:g.32115551A>G	NCBI36
NG_007941.2:g.6488A>G
NG_008337.2:g.74580T>C
NG_007941.3:g.6491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.698A>G MANE Select	ENSP00000496625.1:p.Lys233Arg
ENST00000418967.6:c.698A>G	ENSP00000408860.2:p.Lys233Arg
ENST00000435122.3:c.608A>G	ENSP00000415043.2:p.Lys203Arg
ENST00000462278.1:n.387A>G
ENST00000466779.5:c.*390A>G	ENSP00000417321.1:n.*390A>G
ENST00000466879.5:n.749A>G
ENST00000479074.5:n.756A>G
ENST00000479730.5:n.814A>G
ENST00000483041.5:n.867A>G
ENST00000486063.5:n.878A>G
NM_000500.7:c.698A>G	NP_000491.4:p.Lys233Arg
NM_001128590.3:c.608A>G	NP_001122062.3:p.Lys203Arg
XM_011514314.1:c.293A>G	XP_011512616.1:p.Lys98Arg
NM_000500.9:c.698A>G MANE Select	NP_000491.4:p.Lys233Arg
NM_001368143.1:c.293A>G	NP_001355072.1:p.Lys98Arg
NM_001368144.1:c.293A>G	NP_001355073.1:p.Lys98Arg
NM_001128590.4:c.608A>G	NP_001122062.3:p.Lys203Arg
NM_001368143.2:c.293A>G	NP_001355072.1:p.Lys98Arg
NM_001368144.2:c.293A>G	NP_001355073.1:p.Lys98Arg