Canonical Allele Identifier: CA363505761

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007787C>A (hg19) ; chr6:g.32040010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040010C>A , CM000668.2:g.32040010C>A	GRCh38
NC_000006.11:g.32007787C>A , CM000668.1:g.32007787C>A	GRCh37
NC_000006.10:g.32115766C>A	NCBI36
NG_007941.2:g.6703C>A
NG_008337.2:g.74365G>T
NG_007941.3:g.6706C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.744C>A MANE Select	ENSP00000496625.1:p.Ser248Arg
ENST00000418967.6:c.744C>A	ENSP00000408860.2:p.Ser248Arg
ENST00000435122.3:c.654C>A	ENSP00000415043.2:p.Ser218Arg
ENST00000479074.5:n.802C>A
ENST00000479730.5:n.860C>A
ENST00000483041.5:n.913C>A
ENST00000486063.5:n.918+175C>A
NM_000500.7:c.744C>A	NP_000491.4:p.Ser248Arg
NM_001128590.3:c.654C>A	NP_001122062.3:p.Ser218Arg
XM_011514314.1:c.339C>A	XP_011512616.1:p.Ser113Arg
NM_000500.9:c.744C>A MANE Select	NP_000491.4:p.Ser248Arg
NM_001368143.1:c.339C>A	NP_001355072.1:p.Ser113Arg
NM_001368144.1:c.339C>A	NP_001355073.1:p.Ser113Arg
NM_001128590.4:c.654C>A	NP_001122062.3:p.Ser218Arg
NM_001368143.2:c.339C>A	NP_001355072.1:p.Ser113Arg
NM_001368144.2:c.339C>A	NP_001355073.1:p.Ser113Arg