Canonical Allele Identifier: CA213674

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 35993
• ClinVar RCV Id: RCV000029651 ; RCV003904868
• dbSNP Id: rs193922544
• ExAC: 6:32006864 C / G
• gnomAD v2: 6-32006864-C-G
• gnomAD v3: 6-32039087-C-G
• gnomAD v4: 6-32039087-C-G
• MyVariant Identifiers: chr6:g.32006864C>G (hg19) ; chr6:g.32039087C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039087C>G , CM000668.2:g.32039087C>G	GRCh38
NC_000006.11:g.32006864C>G , CM000668.1:g.32006864C>G	GRCh37
NC_000006.10:g.32114843C>G	NCBI36
NG_007941.2:g.5780C>G
NG_007941.3:g.5783C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.293-7C>G MANE Select	ENSP00000496625.1:n.293-7C>G
ENST00000418967.6:c.293-7C>G	ENSP00000408860.2:n.293-7C>G
ENST00000435122.3:c.203-7C>G	ENSP00000415043.2:n.203-7C>G
ENST00000464325.5:n.230-23C>G
ENST00000466779.5:c.305C>G	ENSP00000417321.1:p.Ser102Cys
ENST00000466879.5:n.337C>G
ENST00000469053.5:c.215C>G	ENSP00000418104.1:p.Ser72Cys
ENST00000471671.4:c.293-7C>G	ENSP00000418561.1:n.293-7C>G
ENST00000478281.5:c.319C>G	ENSP00000419572.1:p.Pro107Ala
ENST00000479074.5:n.351-7C>G
ENST00000479730.5:n.448-7C>G
ENST00000480027.1:n.621C>G
ENST00000483041.5:n.455C>G
ENST00000486063.5:n.473-7C>G
ENST00000488465.1:n.301-7C>G
NM_000500.7:c.293-7C>G	NP_000491.4:n.293-7C>G
NM_001128590.3:c.203-7C>G	NP_001122062.3:n.203-7C>G
XM_011514314.1:c.-120C>G	XP_011512616.1:n.-120C>G
NM_000500.9:c.293-7C>G MANE Select	NP_000491.4:n.293-7C>G
NM_001368143.1:c.-120C>G	NP_001355072.1:n.-120C>G
NM_001368144.1:c.-120C>G	NP_001355073.1:n.-120C>G
NM_001128590.4:c.203-7C>G	NP_001122062.3:n.203-7C>G
NM_001368143.2:c.-120C>G	NP_001355072.1:n.-120C>G
NM_001368144.2:c.-120C>G	NP_001355073.1:n.-120C>G