Canonical Allele Identifier: CA363498745

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 804727
• ClinVar RCV Id: RCV000991865
• dbSNP Id: rs746097144
• gnomAD v2: 6-32006259-G-A
• gnomAD v3: 6-32038482-G-A
• gnomAD v4: 6-32038482-G-A
• MyVariant Identifiers: chr6:g.32006259G>A (hg19) ; chr6:g.32038482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038482G>A , CM000668.2:g.32038482G>A	GRCh38
NC_000006.11:g.32006259G>A , CM000668.1:g.32006259G>A	GRCh37
NC_000006.10:g.32114238G>A	NCBI36
NG_007941.2:g.5175G>A
NG_007941.3:g.5178G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.60G>A MANE Select	ENSP00000496625.1:p.Trp20Ter
ENST00000418967.6:c.60G>A	ENSP00000408860.2:p.Trp20Ter
ENST00000435122.3:c.60G>A	ENSP00000415043.2:p.Trp20Ter
ENST00000466779.5:c.60G>A	ENSP00000417321.1:p.Trp20Ter
ENST00000469053.5:c.60G>A	ENSP00000418104.1:p.Trp20Ter
ENST00000471671.4:c.60G>A	ENSP00000418561.1:p.Trp20Ter
ENST00000478281.5:c.60G>A	ENSP00000419572.1:p.Trp20Ter
ENST00000479074.5:n.118G>A
ENST00000479730.5:n.118G>A
ENST00000480027.1:n.113G>A
ENST00000483041.5:n.113G>A
ENST00000486063.5:n.143G>A
ENST00000488465.1:n.68G>A
NM_000500.7:c.60G>A	NP_000491.4:p.Trp20Ter
NM_001128590.3:c.60G>A	NP_001122062.3:p.Trp20Ter
XM_011514314.1:c.-365G>A	XP_011512616.1:n.-365G>A
NM_000500.9:c.60G>A MANE Select	NP_000491.4:p.Trp20Ter
NM_001368143.1:c.-365G>A	NP_001355072.1:n.-365G>A
NM_001368144.1:c.-275G>A	NP_001355073.1:n.-275G>A
NM_001128590.4:c.60G>A	NP_001122062.3:p.Trp20Ter
NM_001368143.2:c.-365G>A	NP_001355072.1:n.-365G>A
NM_001368144.2:c.-275G>A	NP_001355073.1:n.-275G>A