Canonical Allele Identifier: CA3732547

Gene: CYP21A2

Linked Data

• dbSNP Id: rs752306014
• ExAC: 6:32007848 A / G
• gnomAD v2: 6-32007848-A-G
• gnomAD v4: 6-32040071-A-G
• MyVariant Identifiers: chr6:g.32007848A>G (hg19) ; chr6:g.32040071A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040071A>G , CM000668.2:g.32040071A>G	GRCh38
NC_000006.11:g.32007848A>G , CM000668.1:g.32007848A>G	GRCh37
NC_000006.10:g.32115827A>G	NCBI36
NG_007941.2:g.6764A>G
NG_008337.2:g.74304T>C
NG_007941.3:g.6767A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.805A>G MANE Select	ENSP00000496625.1:p.Ser269Gly
ENST00000418967.6:c.805A>G	ENSP00000408860.2:p.Ser269Gly
ENST00000435122.3:c.715A>G	ENSP00000415043.2:p.Ser239Gly
ENST00000479074.5:n.863A>G
ENST00000479730.5:n.921A>G
ENST00000483041.5:n.974A>G
ENST00000486063.5:n.918+236A>G
NM_000500.7:c.805A>G	NP_000491.4:p.Ser269Gly
NM_001128590.3:c.715A>G	NP_001122062.3:p.Ser239Gly
XM_011514314.1:c.400A>G	XP_011512616.1:p.Ser134Gly
NM_000500.9:c.805A>G MANE Select	NP_000491.4:p.Ser269Gly
NM_001368143.1:c.400A>G	NP_001355072.1:p.Ser134Gly
NM_001368144.1:c.400A>G	NP_001355073.1:p.Ser134Gly
NM_001128590.4:c.715A>G	NP_001122062.3:p.Ser239Gly
NM_001368143.2:c.400A>G	NP_001355072.1:p.Ser134Gly
NM_001368144.2:c.400A>G	NP_001355073.1:p.Ser134Gly