Canonical Allele Identifier: CA1619399419
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040793T= , CM000668.2:g.32040793T= GRCh38
NC_000006.11:g.32008570T= , CM000668.1:g.32008570T= GRCh37
NC_000006.10:g.32116549T= NCBI36
NG_007941.2:g.7486T=
NG_008337.2:g.73582A=
NG_007941.3:g.7489T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1222+22T= MANE Select ENSP00000496625.1:n.1222+22T=
ENST00000418967.6:c.1222+22T= ENSP00000408860.2:n.1222+22T=
ENST00000435122.3:c.1132+22T= ENSP00000415043.2:n.1132+22T=
ENST00000479074.5:n.1363+22T=
ENST00000479730.5:n.1338+22T=
ENST00000483041.5:n.1391+22T=
ENST00000486063.5:n.1201+22T=
NM_000500.7:c.1222+22T= NP_000491.4:n.1222+22T=
NM_001128590.3:c.1132+22T= NP_001122062.3:n.1132+22T=
XM_011514314.1:c.817+22T= XP_011512616.1:n.817+22T=
NM_000500.9:c.1222+22T= MANE Select NP_000491.4:n.1222+22T=
NM_001368143.1:c.817+22T= NP_001355072.1:n.817+22T=
NM_001368144.1:c.817+22T= NP_001355073.1:n.817+22T=
NM_001128590.4:c.1132+22T= NP_001122062.3:n.1132+22T=
NM_001368143.2:c.817+22T= NP_001355072.1:n.817+22T=
NM_001368144.2:c.817+22T= NP_001355073.1:n.817+22T=