Canonical Allele Identifier: CA363505386

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1393755467
• gnomAD v2: 6-32007595-C-G
• gnomAD v4: 6-32039818-C-G
• MyVariant Identifiers: chr6:g.32007595C>G (hg19) ; chr6:g.32039818C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039818C>G , CM000668.2:g.32039818C>G	GRCh38
NC_000006.11:g.32007595C>G , CM000668.1:g.32007595C>G	GRCh37
NC_000006.10:g.32115574C>G	NCBI36
NG_007941.2:g.6511C>G
NG_008337.2:g.74557G>C
NG_007941.3:g.6514C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.721C>G MANE Select	ENSP00000496625.1:p.Gln241Glu
ENST00000418967.6:c.721C>G	ENSP00000408860.2:p.Gln241Glu
ENST00000435122.3:c.631C>G	ENSP00000415043.2:p.Gln211Glu
ENST00000462278.1:n.410C>G
ENST00000466779.5:c.*413C>G	ENSP00000417321.1:n.*413C>G
ENST00000466879.5:n.772C>G
ENST00000479074.5:n.779C>G
ENST00000479730.5:n.837C>G
ENST00000483041.5:n.890C>G
ENST00000486063.5:n.901C>G
NM_000500.7:c.721C>G	NP_000491.4:p.Gln241Glu
NM_001128590.3:c.631C>G	NP_001122062.3:p.Gln211Glu
XM_011514314.1:c.316C>G	XP_011512616.1:p.Gln106Glu
NM_000500.9:c.721C>G MANE Select	NP_000491.4:p.Gln241Glu
NM_001368143.1:c.316C>G	NP_001355072.1:p.Gln106Glu
NM_001368144.1:c.316C>G	NP_001355073.1:p.Gln106Glu
NM_001128590.4:c.631C>G	NP_001122062.3:p.Gln211Glu
NM_001368143.2:c.316C>G	NP_001355072.1:p.Gln106Glu
NM_001368144.2:c.316C>G	NP_001355073.1:p.Gln106Glu