Canonical Allele Identifier: CA3732312

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 2684169
• ClinVar RCV Id: RCV003482665
• dbSNP Id: rs745712520
• ExAC: 6:32006598 G / A
• gnomAD v2: 6-32006598-G-A
• gnomAD v3: 6-32038821-G-A
• gnomAD v4: 6-32038821-G-A
• MyVariant Identifiers: chr6:g.32006598G>A (hg19) ; chr6:g.32038821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038821G>A , CM000668.2:g.32038821G>A	GRCh38
NC_000006.11:g.32006598G>A , CM000668.1:g.32006598G>A	GRCh37
NC_000006.10:g.32114577G>A	NCBI36
NG_007941.2:g.5514G>A
NG_007941.3:g.5517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.292+10G>A MANE Select	ENSP00000496625.1:n.292+10G>A
ENST00000418967.6:c.292+10G>A	ENSP00000408860.2:n.292+10G>A
ENST00000435122.3:c.202+197G>A	ENSP00000415043.2:n.202+197G>A
ENST00000464325.5:n.229+10G>A
ENST00000466779.5:c.292+10G>A	ENSP00000417321.1:n.292+10G>A
ENST00000466879.5:n.71G>A
ENST00000469053.5:c.202+197G>A	ENSP00000418104.1:n.202+197G>A
ENST00000471671.4:c.292+10G>A	ENSP00000418561.1:n.292+10G>A
ENST00000478281.5:c.292+10G>A	ENSP00000419572.1:n.292+10G>A
ENST00000479074.5:n.350+10G>A
ENST00000479730.5:n.447+10G>A
ENST00000480027.1:n.355G>A
ENST00000483041.5:n.442+10G>A
ENST00000486063.5:n.472+10G>A
ENST00000488465.1:n.300+10G>A
NM_000500.7:c.292+10G>A	NP_000491.4:n.292+10G>A
NM_001128590.3:c.202+197G>A	NP_001122062.3:n.202+197G>A
XM_011514314.1:c.-133+10G>A	XP_011512616.1:n.-133+10G>A
NM_000500.9:c.292+10G>A MANE Select	NP_000491.4:n.292+10G>A
NM_001368143.1:c.-133+10G>A	NP_001355072.1:n.-133+10G>A
NM_001368144.1:c.-133+197G>A	NP_001355073.1:n.-133+197G>A
NM_001128590.4:c.202+197G>A	NP_001122062.3:n.202+197G>A
NM_001368143.2:c.-133+10G>A	NP_001355072.1:n.-133+10G>A
NM_001368144.2:c.-133+197G>A	NP_001355073.1:n.-133+197G>A