Canonical Allele Identifier: CA363502201

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007023G>A (hg19) ; chr6:g.32039246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039246G>A , CM000668.2:g.32039246G>A	GRCh38
NC_000006.11:g.32007023G>A , CM000668.1:g.32007023G>A	GRCh37
NC_000006.10:g.32115002G>A	NCBI36
NG_007941.2:g.5939G>A
NG_008337.2:g.75129C>T
NG_007941.3:g.5942G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.445G>A MANE Select	ENSP00000496625.1:p.Glu149Lys
ENST00000418967.6:c.445G>A	ENSP00000408860.2:p.Glu149Lys
ENST00000435122.3:c.355G>A	ENSP00000415043.2:p.Glu119Lys
ENST00000462278.1:n.33G>A
ENST00000464325.5:n.366G>A
ENST00000466779.5:c.*137G>A	ENSP00000417321.1:n.*137G>A
ENST00000466879.5:n.496G>A
ENST00000469053.5:c.*137G>A	ENSP00000418104.1:n.*137G>A
ENST00000471671.4:c.445G>A	ENSP00000418561.1:p.Glu149Lys
ENST00000478281.5:c.478G>A	ENSP00000419572.1:p.Glu160Lys
ENST00000479074.5:n.503G>A
ENST00000479730.5:n.600G>A
ENST00000483041.5:n.614G>A
ENST00000486063.5:n.625G>A
ENST00000488465.1:n.453G>A
NM_000500.7:c.445G>A	NP_000491.4:p.Glu149Lys
NM_001128590.3:c.355G>A	NP_001122062.3:p.Glu119Lys
XM_011514314.1:c.40G>A	XP_011512616.1:p.Glu14Lys
NM_000500.9:c.445G>A MANE Select	NP_000491.4:p.Glu149Lys
NM_001368143.1:c.40G>A	NP_001355072.1:p.Glu14Lys
NM_001368144.1:c.40G>A	NP_001355073.1:p.Glu14Lys
NM_001128590.4:c.355G>A	NP_001122062.3:p.Glu119Lys
NM_001368143.2:c.40G>A	NP_001355072.1:p.Glu14Lys
NM_001368144.2:c.40G>A	NP_001355073.1:p.Glu14Lys