Canonical Allele Identifier: CA3732452

Gene: CYP21A2

Linked Data

• dbSNP Id: rs376930719
• ExAC: 6:32007397 A / G
• gnomAD v2: 6-32007397-A-G
• gnomAD v3: 6-32039620-A-G
• gnomAD v4: 6-32039620-A-G
• MyVariant Identifiers: chr6:g.32007397A>G (hg19) ; chr6:g.32039620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039620A>G , CM000668.2:g.32039620A>G	GRCh38
NC_000006.11:g.32007397A>G , CM000668.1:g.32007397A>G	GRCh37
NC_000006.10:g.32115376A>G	NCBI36
NG_007941.2:g.6313A>G
NG_008337.2:g.74755T>C
NG_007941.3:g.6316A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.624A>G MANE Select	ENSP00000496625.1:p.Gln208=
ENST00000418967.6:c.624A>G	ENSP00000408860.2:p.Gln208=
ENST00000435122.3:c.534A>G	ENSP00000415043.2:p.Gln178=
ENST00000462278.1:n.212A>G
ENST00000464325.5:n.545A>G
ENST00000466779.5:c.*316A>G	ENSP00000417321.1:n.*316A>G
ENST00000466879.5:n.675A>G
ENST00000469053.5:c.*316A>G	ENSP00000418104.1:n.*316A>G
ENST00000479074.5:n.682A>G
ENST00000479730.5:n.740A>G
ENST00000483041.5:n.793A>G
ENST00000486063.5:n.804A>G
NM_000500.7:c.624A>G	NP_000491.4:p.Gln208=
NM_001128590.3:c.534A>G	NP_001122062.3:p.Gln178=
XM_011514314.1:c.219A>G	XP_011512616.1:p.Gln73=
NM_000500.9:c.624A>G MANE Select	NP_000491.4:p.Gln208=
NM_001368143.1:c.219A>G	NP_001355072.1:p.Gln73=
NM_001368144.1:c.219A>G	NP_001355073.1:p.Gln73=
NM_001128590.4:c.534A>G	NP_001122062.3:p.Gln178=
NM_001368143.2:c.219A>G	NP_001355072.1:p.Gln73=
NM_001368144.2:c.219A>G	NP_001355073.1:p.Gln73=