Canonical Allele Identifier: CA363503713

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1201722593
• gnomAD v3: 6-32039585-G-A
• gnomAD v4: 6-32039585-G-A
• MyVariant Identifiers: chr6:g.32007362G>A (hg19) ; chr6:g.32039585G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039585G>A , CM000668.2:g.32039585G>A	GRCh38
NC_000006.11:g.32007362G>A , CM000668.1:g.32007362G>A	GRCh37
NC_000006.10:g.32115341G>A	NCBI36
NG_007941.2:g.6278G>A
NG_008337.2:g.74790C>T
NG_007941.3:g.6281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.589G>A MANE Select	ENSP00000496625.1:p.Glu197Lys
ENST00000418967.6:c.589G>A	ENSP00000408860.2:p.Glu197Lys
ENST00000435122.3:c.499G>A	ENSP00000415043.2:p.Glu167Lys
ENST00000462278.1:n.177G>A
ENST00000464325.5:n.510G>A
ENST00000466779.5:c.*281G>A	ENSP00000417321.1:n.*281G>A
ENST00000466879.5:n.640G>A
ENST00000469053.5:c.*281G>A	ENSP00000418104.1:n.*281G>A
ENST00000471671.4:c.550G>A	ENSP00000418561.1:p.Glu184Lys
ENST00000479074.5:n.647G>A
ENST00000479730.5:n.705G>A
ENST00000483041.5:n.758G>A
ENST00000486063.5:n.769G>A
NM_000500.7:c.589G>A	NP_000491.4:p.Glu197Lys
NM_001128590.3:c.499G>A	NP_001122062.3:p.Glu167Lys
XM_011514314.1:c.184G>A	XP_011512616.1:p.Glu62Lys
NM_000500.9:c.589G>A MANE Select	NP_000491.4:p.Glu197Lys
NM_001368143.1:c.184G>A	NP_001355072.1:p.Glu62Lys
NM_001368144.1:c.184G>A	NP_001355073.1:p.Glu62Lys
NM_001128590.4:c.499G>A	NP_001122062.3:p.Glu167Lys
NM_001368143.2:c.184G>A	NP_001355072.1:p.Glu62Lys
NM_001368144.2:c.184G>A	NP_001355073.1:p.Glu62Lys