Canonical Allele Identifier: CA363502273

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007025G>T (hg19) ; chr6:g.32039248G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039248G>T , CM000668.2:g.32039248G>T	GRCh38
NC_000006.11:g.32007025G>T , CM000668.1:g.32007025G>T	GRCh37
NC_000006.10:g.32115004G>T	NCBI36
NG_007941.2:g.5941G>T
NG_008337.2:g.75127C>A
NG_007941.3:g.5944G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.447G>T MANE Select	ENSP00000496625.1:p.Glu149Asp
ENST00000418967.6:c.447G>T	ENSP00000408860.2:p.Glu149Asp
ENST00000435122.3:c.357G>T	ENSP00000415043.2:p.Glu119Asp
ENST00000462278.1:n.35G>T
ENST00000464325.5:n.368G>T
ENST00000466779.5:c.*139G>T	ENSP00000417321.1:n.*139G>T
ENST00000466879.5:n.498G>T
ENST00000469053.5:c.*139G>T	ENSP00000418104.1:n.*139G>T
ENST00000471671.4:c.447G>T	ENSP00000418561.1:p.Glu149Asp
ENST00000478281.5:c.480G>T	ENSP00000419572.1:p.Glu160Asp
ENST00000479074.5:n.505G>T
ENST00000479730.5:n.602G>T
ENST00000483041.5:n.616G>T
ENST00000486063.5:n.627G>T
ENST00000488465.1:n.455G>T
NM_000500.7:c.447G>T	NP_000491.4:p.Glu149Asp
NM_001128590.3:c.357G>T	NP_001122062.3:p.Glu119Asp
XM_011514314.1:c.42G>T	XP_011512616.1:p.Glu14Asp
NM_000500.9:c.447G>T MANE Select	NP_000491.4:p.Glu149Asp
NM_001368143.1:c.42G>T	NP_001355072.1:p.Glu14Asp
NM_001368144.1:c.42G>T	NP_001355073.1:p.Glu14Asp
NM_001128590.4:c.357G>T	NP_001122062.3:p.Glu119Asp
NM_001368143.2:c.42G>T	NP_001355072.1:p.Glu14Asp
NM_001368144.2:c.42G>T	NP_001355073.1:p.Glu14Asp