Canonical Allele Identifier: CA363502129

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007020T>C (hg19) ; chr6:g.32039243T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039243T>C , CM000668.2:g.32039243T>C	GRCh38
NC_000006.11:g.32007020T>C , CM000668.1:g.32007020T>C	GRCh37
NC_000006.10:g.32114999T>C	NCBI36
NG_007941.2:g.5936T>C
NG_008337.2:g.75132A>G
NG_007941.3:g.5939T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.442T>C MANE Select	ENSP00000496625.1:p.Cys148Arg
ENST00000418967.6:c.442T>C	ENSP00000408860.2:p.Cys148Arg
ENST00000435122.3:c.352T>C	ENSP00000415043.2:p.Cys118Arg
ENST00000462278.1:n.30T>C
ENST00000464325.5:n.363T>C
ENST00000466779.5:c.*134T>C	ENSP00000417321.1:n.*134T>C
ENST00000466879.5:n.493T>C
ENST00000469053.5:c.*134T>C	ENSP00000418104.1:n.*134T>C
ENST00000471671.4:c.442T>C	ENSP00000418561.1:p.Cys148Arg
ENST00000478281.5:c.475T>C	ENSP00000419572.1:p.Cys159Arg
ENST00000479074.5:n.500T>C
ENST00000479730.5:n.597T>C
ENST00000483041.5:n.611T>C
ENST00000486063.5:n.622T>C
ENST00000488465.1:n.450T>C
NM_000500.7:c.442T>C	NP_000491.4:p.Cys148Arg
NM_001128590.3:c.352T>C	NP_001122062.3:p.Cys118Arg
XM_011514314.1:c.37T>C	XP_011512616.1:p.Cys13Arg
NM_000500.9:c.442T>C MANE Select	NP_000491.4:p.Cys148Arg
NM_001368143.1:c.37T>C	NP_001355072.1:p.Cys13Arg
NM_001368144.1:c.37T>C	NP_001355073.1:p.Cys13Arg
NM_001128590.4:c.352T>C	NP_001122062.3:p.Cys118Arg
NM_001368143.2:c.37T>C	NP_001355072.1:p.Cys13Arg
NM_001368144.2:c.37T>C	NP_001355073.1:p.Cys13Arg