Canonical Allele Identifier: CA344929

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 65608
• ClinVar RCV Id: RCV000055817 ; RCV000245772 ; RCV000711377
• dbSNP Id: rs6474
• ExAC: 6:32006886 G / A
• gnomAD v2: 6-32006886-G-A
• gnomAD v3: 6-32039109-G-A
• gnomAD v4: 6-32039109-G-A
• MyVariant Identifiers: chr6:g.32006886G>A (hg19) ; chr6:g.32039109G>A (hg38)
• PubMed: PMID:20301350

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039109G>A , CM000668.2:g.32039109G>A	GRCh38
NC_000006.11:g.32006886G>A , CM000668.1:g.32006886G>A	GRCh37
NC_000006.10:g.32114865G>A	NCBI36
NG_007941.2:g.5802G>A
NG_007941.3:g.5805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.308G>A MANE Select	ENSP00000496625.1:p.Arg103Lys
ENST00000418967.6:c.308G>A	ENSP00000408860.2:p.Arg103Lys
ENST00000435122.3:c.218G>A	ENSP00000415043.2:p.Arg73Lys
ENST00000464325.5:n.230-1G>A
ENST00000466779.5:c.327G>A	ENSP00000417321.1:p.Ter109=
ENST00000466879.5:n.359G>A
ENST00000469053.5:c.237G>A	ENSP00000418104.1:p.Ter79=
ENST00000471671.4:c.308G>A	ENSP00000418561.1:p.Arg103Lys
ENST00000478281.5:c.341G>A	ENSP00000419572.1:p.Arg114Lys
ENST00000479074.5:n.366G>A
ENST00000479730.5:n.463G>A
ENST00000480027.1:n.643G>A
ENST00000483041.5:n.477G>A
ENST00000486063.5:n.488G>A
ENST00000488465.1:n.316G>A
NM_000500.7:c.308G>A	NP_000491.4:p.Arg103Lys
NM_001128590.3:c.218G>A	NP_001122062.3:p.Arg73Lys
XM_011514314.1:c.-98G>A	XP_011512616.1:n.-98G>A
NM_000500.9:c.308G>A MANE Select	NP_000491.4:p.Arg103Lys
NM_001368143.1:c.-98G>A	NP_001355072.1:n.-98G>A
NM_001368144.1:c.-98G>A	NP_001355073.1:n.-98G>A
NM_001128590.4:c.218G>A	NP_001122062.3:p.Arg73Lys
NM_001368143.2:c.-98G>A	NP_001355072.1:n.-98G>A
NM_001368144.2:c.-98G>A	NP_001355073.1:n.-98G>A