Canonical Allele Identifier: CA1619397079
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039630G= , CM000668.2:g.32039630G= GRCh38
NC_000006.11:g.32007407G= , CM000668.1:g.32007407G= GRCh37
NC_000006.10:g.32115386G= NCBI36
NG_007941.2:g.6323G=
NG_008337.2:g.74745C=
NG_007941.3:g.6326G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.634G= MANE Select ENSP00000496625.1:p.Val212=
ENST00000418967.6:c.634G= ENSP00000408860.2:p.Val212=
ENST00000435122.3:c.544G= ENSP00000415043.2:p.Val182=
ENST00000462278.1:n.222G=
ENST00000464325.5:n.555G=
ENST00000466779.5:c.*326G= ENSP00000417321.1:n.*326G=
ENST00000466879.5:n.685G=
ENST00000469053.5:c.*326G= ENSP00000418104.1:n.*326G=
ENST00000479074.5:n.692G=
ENST00000479730.5:n.750G=
ENST00000483041.5:n.803G=
ENST00000486063.5:n.814G=
NM_000500.7:c.634G= NP_000491.4:p.Val212=
NM_001128590.3:c.544G= NP_001122062.3:p.Val182=
XM_011514314.1:c.229G= XP_011512616.1:p.Val77=
NM_000500.9:c.634G= MANE Select NP_000491.4:p.Val212=
NM_001368143.1:c.229G= NP_001355072.1:p.Val77=
NM_001368144.1:c.229G= NP_001355073.1:p.Val77=
NM_001128590.4:c.544G= NP_001122062.3:p.Val182=
NM_001368143.2:c.229G= NP_001355072.1:p.Val77=
NM_001368144.2:c.229G= NP_001355073.1:p.Val77=