Canonical Allele Identifier: CA363512230
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1390917339

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040979C>G , CM000668.2:g.32040979C>G GRCh38
NC_000006.11:g.32008756C>G , CM000668.1:g.32008756C>G GRCh37
NC_000006.10:g.32116735C>G NCBI36
NG_007941.2:g.7672C>G
NG_008337.2:g.73396G>C
NG_007941.3:g.7675C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1333C>G MANE Select ENSP00000496625.1:p.Arg445Gly
ENST00000418967.6:c.1333C>G ENSP00000408860.2:p.Arg445Gly
ENST00000435122.3:c.1243C>G ENSP00000415043.2:p.Arg415Gly
ENST00000479074.5:n.1474C>G
ENST00000479730.5:n.1449C>G
ENST00000483041.5:n.1502C>G
ENST00000486063.5:n.1312C>G
NM_000500.7:c.1333C>G NP_000491.4:p.Arg445Gly
NM_001128590.3:c.1243C>G NP_001122062.3:p.Arg415Gly
XM_011514314.1:c.928C>G XP_011512616.1:p.Arg310Gly
NM_000500.9:c.1333C>G MANE Select NP_000491.4:p.Arg445Gly
NM_001368143.1:c.928C>G NP_001355072.1:p.Arg310Gly
NM_001368144.1:c.928C>G NP_001355073.1:p.Arg310Gly
NM_001128590.4:c.1243C>G NP_001122062.3:p.Arg415Gly
NM_001368143.2:c.928C>G NP_001355072.1:p.Arg310Gly
NM_001368144.2:c.928C>G NP_001355073.1:p.Arg310Gly