Canonical Allele Identifier: CA363503050

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007205T>A (hg19) ; chr6:g.32039428T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039428T>A , CM000668.2:g.32039428T>A	GRCh38
NC_000006.11:g.32007205T>A , CM000668.1:g.32007205T>A	GRCh37
NC_000006.10:g.32115184T>A	NCBI36
NG_007941.2:g.6121T>A
NG_008337.2:g.74947A>T
NG_007941.3:g.6124T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.520T>A MANE Select	ENSP00000496625.1:p.Cys174Ser
ENST00000418967.6:c.520T>A	ENSP00000408860.2:p.Cys174Ser
ENST00000435122.3:c.430T>A	ENSP00000415043.2:p.Cys144Ser
ENST00000462278.1:n.108T>A
ENST00000464325.5:n.441T>A
ENST00000466779.5:c.*212T>A	ENSP00000417321.1:n.*212T>A
ENST00000466879.5:n.571T>A
ENST00000469053.5:c.*212T>A	ENSP00000418104.1:n.*212T>A
ENST00000471671.4:c.520T>A	ENSP00000418561.1:p.Cys174Ser
ENST00000478281.5:c.553T>A	ENSP00000419572.1:p.Cys185Ser
ENST00000479074.5:n.578T>A
ENST00000479730.5:n.675T>A
ENST00000483041.5:n.689T>A
ENST00000486063.5:n.700T>A
ENST00000488465.1:n.528T>A
NM_000500.7:c.520T>A	NP_000491.4:p.Cys174Ser
NM_001128590.3:c.430T>A	NP_001122062.3:p.Cys144Ser
XM_011514314.1:c.115T>A	XP_011512616.1:p.Cys39Ser
NM_000500.9:c.520T>A MANE Select	NP_000491.4:p.Cys174Ser
NM_001368143.1:c.115T>A	NP_001355072.1:p.Cys39Ser
NM_001368144.1:c.115T>A	NP_001355073.1:p.Cys39Ser
NM_001128590.4:c.430T>A	NP_001122062.3:p.Cys144Ser
NM_001368143.2:c.115T>A	NP_001355072.1:p.Cys39Ser
NM_001368144.2:c.115T>A	NP_001355073.1:p.Cys39Ser