Canonical Allele Identifier: CA1619397177
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039816T= , CM000668.2:g.32039816T= GRCh38
NC_000006.11:g.32007593T= , CM000668.1:g.32007593T= GRCh37
NC_000006.10:g.32115572T= NCBI36
NG_007941.2:g.6509T=
NG_008337.2:g.74559A=
NG_007941.3:g.6512T=

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.719T= MANE Select ENSP00000496625.1:p.Met240=
ENST00000418967.6:c.719T= ENSP00000408860.2:p.Met240=
ENST00000435122.3:c.629T= ENSP00000415043.2:p.Met210=
ENST00000462278.1:n.408T=
ENST00000466779.5:c.*411T= ENSP00000417321.1:n.*411T=
ENST00000466879.5:n.770T=
ENST00000479074.5:n.777T=
ENST00000479730.5:n.835T=
ENST00000483041.5:n.888T=
ENST00000486063.5:n.899T=
NM_000500.7:c.719T= NP_000491.4:p.Met240=
NM_001128590.3:c.629T= NP_001122062.3:p.Met210=
XM_011514314.1:c.314T= XP_011512616.1:p.Met105=
NM_000500.9:c.719T= MANE Select NP_000491.4:p.Met240=
NM_001368143.1:c.314T= NP_001355072.1:p.Met105=
NM_001368144.1:c.314T= NP_001355073.1:p.Met105=
NM_001128590.4:c.629T= NP_001122062.3:p.Met210=
NM_001368143.2:c.314T= NP_001355072.1:p.Met105=
NM_001368144.2:c.314T= NP_001355073.1:p.Met105=