Canonical Allele Identifier: CA363504119

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007397A>C (hg19) ; chr6:g.32039620A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.624A>C MANE Select	ENSP00000496625.1:p.Gln208His
ENST00000418967.6:c.624A>C	ENSP00000408860.2:p.Gln208His
ENST00000435122.3:c.534A>C	ENSP00000415043.2:p.Gln178His
ENST00000462278.1:n.212A>C
ENST00000464325.5:n.545A>C
ENST00000466779.5:c.*316A>C	ENSP00000417321.1:n.*316A>C
ENST00000466879.5:n.675A>C
ENST00000469053.5:c.*316A>C	ENSP00000418104.1:n.*316A>C
ENST00000479074.5:n.682A>C
ENST00000479730.5:n.740A>C
ENST00000483041.5:n.793A>C
ENST00000486063.5:n.804A>C
NM_000500.7:c.624A>C	NP_000491.4:p.Gln208His
NM_001128590.3:c.534A>C	NP_001122062.3:p.Gln178His
XM_011514314.1:c.219A>C	XP_011512616.1:p.Gln73His
NM_000500.9:c.624A>C MANE Select	NP_000491.4:p.Gln208His
NM_001368143.1:c.219A>C	NP_001355072.1:p.Gln73His
NM_001368144.1:c.219A>C	NP_001355073.1:p.Gln73His
NM_001128590.4:c.534A>C	NP_001122062.3:p.Gln178His
NM_001368143.2:c.219A>C	NP_001355072.1:p.Gln73His
NM_001368144.2:c.219A>C	NP_001355073.1:p.Gln73His