Canonical Allele Identifier: CA449729774
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32007913G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040136G>C , CM000668.2:g.32040136G>C GRCh38
NC_000006.11:g.32007913G>C , CM000668.1:g.32007913G>C GRCh37
NC_000006.10:g.32115892G>C NCBI36
NG_007941.2:g.6829G>C
NG_008337.2:g.74239C>G
NG_007941.3:g.6832G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.870G>C MANE Select ENSP00000496625.1:p.Leu290=
ENST00000418967.6:c.870G>C ENSP00000408860.2:p.Leu290=
ENST00000435122.3:c.780G>C ENSP00000415043.2:p.Leu260=
ENST00000479074.5:n.928G>C
ENST00000479730.5:n.986G>C
ENST00000483041.5:n.1039G>C
ENST00000486063.5:n.919-270G>C
NM_000500.7:c.870G>C NP_000491.4:p.Leu290=
NM_001128590.3:c.780G>C NP_001122062.3:p.Leu260=
XM_011514314.1:c.465G>C XP_011512616.1:p.Leu155=
NM_000500.9:c.870G>C MANE Select NP_000491.4:p.Leu290=
NM_001368143.1:c.465G>C NP_001355072.1:p.Leu155=
NM_001368144.1:c.465G>C NP_001355073.1:p.Leu155=
NM_001128590.4:c.780G>C NP_001122062.3:p.Leu260=
NM_001368143.2:c.465G>C NP_001355072.1:p.Leu155=
NM_001368144.2:c.465G>C NP_001355073.1:p.Leu155=