Canonical Allele Identifier: CA363504257

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007411T>A (hg19) ; chr6:g.32039634T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039634T>A , CM000668.2:g.32039634T>A	GRCh38
NC_000006.11:g.32007411T>A , CM000668.1:g.32007411T>A	GRCh37
NC_000006.10:g.32115390T>A	NCBI36
NG_007941.2:g.6327T>A
NG_008337.2:g.74741A>T
NG_007941.3:g.6330T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.638T>A MANE Select	ENSP00000496625.1:p.Ile213Asn
ENST00000418967.6:c.638T>A	ENSP00000408860.2:p.Ile213Asn
ENST00000435122.3:c.548T>A	ENSP00000415043.2:p.Ile183Asn
ENST00000462278.1:n.226T>A
ENST00000464325.5:n.559T>A
ENST00000466779.5:c.*330T>A	ENSP00000417321.1:n.*330T>A
ENST00000466879.5:n.689T>A
ENST00000469053.5:c.*330T>A	ENSP00000418104.1:n.*330T>A
ENST00000479074.5:n.696T>A
ENST00000479730.5:n.754T>A
ENST00000483041.5:n.807T>A
ENST00000486063.5:n.818T>A
NM_000500.7:c.638T>A	NP_000491.4:p.Ile213Asn
NM_001128590.3:c.548T>A	NP_001122062.3:p.Ile183Asn
XM_011514314.1:c.233T>A	XP_011512616.1:p.Ile78Asn
NM_000500.9:c.638T>A MANE Select	NP_000491.4:p.Ile213Asn
NM_001368143.1:c.233T>A	NP_001355072.1:p.Ile78Asn
NM_001368144.1:c.233T>A	NP_001355073.1:p.Ile78Asn
NM_001128590.4:c.548T>A	NP_001122062.3:p.Ile183Asn
NM_001368143.2:c.233T>A	NP_001355072.1:p.Ile78Asn
NM_001368144.2:c.233T>A	NP_001355073.1:p.Ile78Asn