Canonical Allele Identifier: CA2845775000

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038645T>C , CM000668.2:g.32038645T>C	GRCh38
NC_000006.11:g.32006422T>C , CM000668.1:g.32006422T>C	GRCh37
NC_000006.10:g.32114401T>C	NCBI36
NG_007941.2:g.5338T>C
NG_007941.3:g.5341T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.202+21T>C MANE Select	ENSP00000496625.1:n.202+21T>C
ENST00000418967.6:c.202+21T>C	ENSP00000408860.2:n.202+21T>C
ENST00000435122.3:c.202+21T>C	ENSP00000415043.2:n.202+21T>C
ENST00000464325.5:n.63T>C
ENST00000466779.5:c.202+21T>C	ENSP00000417321.1:n.202+21T>C
ENST00000469053.5:c.202+21T>C	ENSP00000418104.1:n.202+21T>C
ENST00000471671.4:c.202+21T>C	ENSP00000418561.1:n.202+21T>C
ENST00000478281.5:c.202+21T>C	ENSP00000419572.1:n.202+21T>C
ENST00000479074.5:n.260+21T>C
ENST00000479730.5:n.281T>C
ENST00000480027.1:n.255+21T>C
ENST00000483041.5:n.276T>C
ENST00000486063.5:n.306T>C
ENST00000488465.1:n.210+21T>C
NM_000500.7:c.202+21T>C	NP_000491.4:n.202+21T>C
NM_001128590.3:c.202+21T>C	NP_001122062.3:n.202+21T>C
XM_011514314.1:c.-223+21T>C	XP_011512616.1:n.-223+21T>C
NM_000500.9:c.202+21T>C MANE Select	NP_000491.4:n.202+21T>C
NM_001368143.1:c.-223+21T>C	NP_001355072.1:n.-223+21T>C
NM_001368144.1:c.-133+21T>C	NP_001355073.1:n.-133+21T>C
NM_001128590.4:c.202+21T>C	NP_001122062.3:n.202+21T>C
NM_001368143.2:c.-223+21T>C	NP_001355072.1:n.-223+21T>C
NM_001368144.2:c.-133+21T>C	NP_001355073.1:n.-133+21T>C