Canonical Allele Identifier: CA363503694

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007360A>T (hg19) ; chr6:g.32039583A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039583A>T , CM000668.2:g.32039583A>T	GRCh38
NC_000006.11:g.32007360A>T , CM000668.1:g.32007360A>T	GRCh37
NC_000006.10:g.32115339A>T	NCBI36
NG_007941.2:g.6276A>T
NG_008337.2:g.74792T>A
NG_007941.3:g.6279A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.587A>T MANE Select	ENSP00000496625.1:p.Gln196Leu
ENST00000418967.6:c.587A>T	ENSP00000408860.2:p.Gln196Leu
ENST00000435122.3:c.497A>T	ENSP00000415043.2:p.Gln166Leu
ENST00000462278.1:n.175A>T
ENST00000464325.5:n.508A>T
ENST00000466779.5:c.*279A>T	ENSP00000417321.1:n.*279A>T
ENST00000466879.5:n.638A>T
ENST00000469053.5:c.*279A>T	ENSP00000418104.1:n.*279A>T
ENST00000471671.4:c.550-2A>T	ENSP00000418561.1:n.550-2A>T
ENST00000479074.5:n.645A>T
ENST00000479730.5:n.705-2A>T
ENST00000483041.5:n.756A>T
ENST00000486063.5:n.767A>T
NM_000500.7:c.587A>T	NP_000491.4:p.Gln196Leu
NM_001128590.3:c.497A>T	NP_001122062.3:p.Gln166Leu
XM_011514314.1:c.182A>T	XP_011512616.1:p.Gln61Leu
NM_000500.9:c.587A>T MANE Select	NP_000491.4:p.Gln196Leu
NM_001368143.1:c.182A>T	NP_001355072.1:p.Gln61Leu
NM_001368144.1:c.182A>T	NP_001355073.1:p.Gln61Leu
NM_001128590.4:c.497A>T	NP_001122062.3:p.Gln166Leu
NM_001368143.2:c.182A>T	NP_001355072.1:p.Gln61Leu
NM_001368144.2:c.182A>T	NP_001355073.1:p.Gln61Leu