Canonical Allele Identifier: CA363506751
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1776180349

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040092C>G , CM000668.2:g.32040092C>G GRCh38
NC_000006.11:g.32007869C>G , CM000668.1:g.32007869C>G GRCh37
NC_000006.10:g.32115848C>G NCBI36
NG_007941.2:g.6785C>G
NG_008337.2:g.74283G>C
NG_007941.3:g.6788C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.826C>G MANE Select ENSP00000496625.1:p.Gln276Glu
ENST00000418967.6:c.826C>G ENSP00000408860.2:p.Gln276Glu
ENST00000435122.3:c.736C>G ENSP00000415043.2:p.Gln246Glu
ENST00000479074.5:n.884C>G
ENST00000479730.5:n.942C>G
ENST00000483041.5:n.995C>G
ENST00000486063.5:n.918+257C>G
NM_000500.7:c.826C>G NP_000491.4:p.Gln276Glu
NM_001128590.3:c.736C>G NP_001122062.3:p.Gln246Glu
XM_011514314.1:c.421C>G XP_011512616.1:p.Gln141Glu
NM_000500.9:c.826C>G MANE Select NP_000491.4:p.Gln276Glu
NM_001368143.1:c.421C>G NP_001355072.1:p.Gln141Glu
NM_001368144.1:c.421C>G NP_001355073.1:p.Gln141Glu
NM_001128590.4:c.736C>G NP_001122062.3:p.Gln246Glu
NM_001368143.2:c.421C>G NP_001355072.1:p.Gln141Glu
NM_001368144.2:c.421C>G NP_001355073.1:p.Gln141Glu