Canonical Allele Identifier: CA363510917

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32008256A>G (hg19) ; chr6:g.32040479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040479A>G , CM000668.2:g.32040479A>G	GRCh38
NC_000006.11:g.32008256A>G , CM000668.1:g.32008256A>G	GRCh37
NC_000006.10:g.32116235A>G	NCBI36
NG_007941.2:g.7172A>G
NG_008337.2:g.73896T>C
NG_007941.3:g.7175A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1013A>G MANE Select	ENSP00000496625.1:p.Lys338Arg
ENST00000418967.6:c.1013A>G	ENSP00000408860.2:p.Lys338Arg
ENST00000435122.3:c.923A>G	ENSP00000415043.2:p.Lys308Arg
ENST00000479074.5:n.1071A>G
ENST00000479730.5:n.1129A>G
ENST00000483041.5:n.1182A>G
ENST00000486063.5:n.992A>G
NM_000500.7:c.1013A>G	NP_000491.4:p.Lys338Arg
NM_001128590.3:c.923A>G	NP_001122062.3:p.Lys308Arg
XM_011514314.1:c.608A>G	XP_011512616.1:p.Lys203Arg
NM_000500.9:c.1013A>G MANE Select	NP_000491.4:p.Lys338Arg
NM_001368143.1:c.608A>G	NP_001355072.1:p.Lys203Arg
NM_001368144.1:c.608A>G	NP_001355073.1:p.Lys203Arg
NM_001128590.4:c.923A>G	NP_001122062.3:p.Lys308Arg
NM_001368143.2:c.608A>G	NP_001355072.1:p.Lys203Arg
NM_001368144.2:c.608A>G	NP_001355073.1:p.Lys203Arg