Canonical Allele Identifier: CA2678088277

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039301-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039301C>G , CM000668.2:g.32039301C>G	GRCh38
NC_000006.11:g.32007078C>G , CM000668.1:g.32007078C>G	GRCh37
NC_000006.10:g.32115057C>G	NCBI36
NG_007941.2:g.5994C>G
NG_008337.2:g.75074G>C
NG_007941.3:g.5997C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.447+53C>G MANE Select	ENSP00000496625.1:n.447+53C>G
ENST00000418967.6:c.447+53C>G	ENSP00000408860.2:n.447+53C>G
ENST00000435122.3:c.357+53C>G	ENSP00000415043.2:n.357+53C>G
ENST00000462278.1:n.35+53C>G
ENST00000464325.5:n.368+53C>G
ENST00000466779.5:c.*139+53C>G	ENSP00000417321.1:n.*139+53C>G
ENST00000466879.5:n.498+53C>G
ENST00000469053.5:c.*139+53C>G	ENSP00000418104.1:n.*139+53C>G
ENST00000471671.4:c.447+53C>G	ENSP00000418561.1:n.447+53C>G
ENST00000478281.5:c.480+53C>G	ENSP00000419572.1:n.480+53C>G
ENST00000479074.5:n.505+53C>G
ENST00000479730.5:n.602+53C>G
ENST00000483041.5:n.616+53C>G
ENST00000486063.5:n.627+53C>G
ENST00000488465.1:n.455+53C>G
NM_000500.7:c.447+53C>G	NP_000491.4:n.447+53C>G
NM_001128590.3:c.357+53C>G	NP_001122062.3:n.357+53C>G
XM_011514314.1:c.42+53C>G	XP_011512616.1:n.42+53C>G
NM_000500.9:c.447+53C>G MANE Select	NP_000491.4:n.447+53C>G
NM_001368143.1:c.42+53C>G	NP_001355072.1:n.42+53C>G
NM_001368144.1:c.42+53C>G	NP_001355073.1:n.42+53C>G
NM_001128590.4:c.357+53C>G	NP_001122062.3:n.357+53C>G
NM_001368143.2:c.42+53C>G	NP_001355072.1:n.42+53C>G
NM_001368144.2:c.42+53C>G	NP_001355073.1:n.42+53C>G