Canonical Allele Identifier: CA363505268

Gene: CYP21A2

Linked Data

• dbSNP Id: rs530758070
• gnomAD v2: 6-32007585-C-G
• gnomAD v3: 6-32039808-C-G
• gnomAD v4: 6-32039808-C-G
• MyVariant Identifiers: chr6:g.32007585C>G (hg19) ; chr6:g.32039808C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039808C>G , CM000668.2:g.32039808C>G	GRCh38
NC_000006.11:g.32007585C>G , CM000668.1:g.32007585C>G	GRCh37
NC_000006.10:g.32115564C>G	NCBI36
NG_007941.2:g.6501C>G
NG_008337.2:g.74567G>C
NG_007941.3:g.6504C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.711C>G MANE Select	ENSP00000496625.1:p.Ile237Met
ENST00000418967.6:c.711C>G	ENSP00000408860.2:p.Ile237Met
ENST00000435122.3:c.621C>G	ENSP00000415043.2:p.Ile207Met
ENST00000462278.1:n.400C>G
ENST00000466779.5:c.*403C>G	ENSP00000417321.1:n.*403C>G
ENST00000466879.5:n.762C>G
ENST00000479074.5:n.769C>G
ENST00000479730.5:n.827C>G
ENST00000483041.5:n.880C>G
ENST00000486063.5:n.891C>G
NM_000500.7:c.711C>G	NP_000491.4:p.Ile237Met
NM_001128590.3:c.621C>G	NP_001122062.3:p.Ile207Met
XM_011514314.1:c.306C>G	XP_011512616.1:p.Ile102Met
NM_000500.9:c.711C>G MANE Select	NP_000491.4:p.Ile237Met
NM_001368143.1:c.306C>G	NP_001355072.1:p.Ile102Met
NM_001368144.1:c.306C>G	NP_001355073.1:p.Ile102Met
NM_001128590.4:c.621C>G	NP_001122062.3:p.Ile207Met
NM_001368143.2:c.306C>G	NP_001355072.1:p.Ile102Met
NM_001368144.2:c.306C>G	NP_001355073.1:p.Ile102Met