Canonical Allele Identifier: CA136894318

Gene: CYP21A2

Linked Data

• dbSNP Id: rs937490977
• MyVariant Identifiers: chr6:g.32007396A>G (hg19) ; chr6:g.32039619A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039619A>G , CM000668.2:g.32039619A>G	GRCh38
NC_000006.11:g.32007396A>G , CM000668.1:g.32007396A>G	GRCh37
NC_000006.10:g.32115375A>G	NCBI36
NG_007941.2:g.6312A>G
NG_008337.2:g.74756T>C
NG_007941.3:g.6315A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.623A>G MANE Select	ENSP00000496625.1:p.Gln208Arg
ENST00000418967.6:c.623A>G	ENSP00000408860.2:p.Gln208Arg
ENST00000435122.3:c.533A>G	ENSP00000415043.2:p.Gln178Arg
ENST00000462278.1:n.211A>G
ENST00000464325.5:n.544A>G
ENST00000466779.5:c.*315A>G	ENSP00000417321.1:n.*315A>G
ENST00000466879.5:n.674A>G
ENST00000469053.5:c.*315A>G	ENSP00000418104.1:n.*315A>G
ENST00000479074.5:n.681A>G
ENST00000479730.5:n.739A>G
ENST00000483041.5:n.792A>G
ENST00000486063.5:n.803A>G
NM_000500.7:c.623A>G	NP_000491.4:p.Gln208Arg
NM_001128590.3:c.533A>G	NP_001122062.3:p.Gln178Arg
XM_011514314.1:c.218A>G	XP_011512616.1:p.Gln73Arg
NM_000500.9:c.623A>G MANE Select	NP_000491.4:p.Gln208Arg
NM_001368143.1:c.218A>G	NP_001355072.1:p.Gln73Arg
NM_001368144.1:c.218A>G	NP_001355073.1:p.Gln73Arg
NM_001128590.4:c.533A>G	NP_001122062.3:p.Gln178Arg
NM_001368143.2:c.218A>G	NP_001355072.1:p.Gln73Arg
NM_001368144.2:c.218A>G	NP_001355073.1:p.Gln73Arg