Canonical Allele Identifier: CA1619397110
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039691G= , CM000668.2:g.32039691G= GRCh38
NC_000006.11:g.32007468G= , CM000668.1:g.32007468G= GRCh37
NC_000006.10:g.32115447G= NCBI36
NG_007941.2:g.6384G=
NG_008337.2:g.74684C=
NG_007941.3:g.6387G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.651+44G= MANE Select ENSP00000496625.1:n.651+44G=
ENST00000418967.6:c.651+44G= ENSP00000408860.2:n.651+44G=
ENST00000435122.3:c.561+44G= ENSP00000415043.2:n.561+44G=
ENST00000462278.1:n.283G=
ENST00000464325.5:n.572+44G=
ENST00000466779.5:c.*343+44G= ENSP00000417321.1:n.*343+44G=
ENST00000466879.5:n.702+44G=
ENST00000479074.5:n.709+44G=
ENST00000479730.5:n.767+44G=
ENST00000483041.5:n.820+44G=
ENST00000486063.5:n.831+44G=
NM_000500.7:c.651+44G= NP_000491.4:n.651+44G=
NM_001128590.3:c.561+44G= NP_001122062.3:n.561+44G=
XM_011514314.1:c.246+44G= XP_011512616.1:n.246+44G=
NM_000500.9:c.651+44G= MANE Select NP_000491.4:n.651+44G=
NM_001368143.1:c.246+44G= NP_001355072.1:n.246+44G=
NM_001368144.1:c.246+44G= NP_001355073.1:n.246+44G=
NM_001128590.4:c.561+44G= NP_001122062.3:n.561+44G=
NM_001368143.2:c.246+44G= NP_001355072.1:n.246+44G=
NM_001368144.2:c.246+44G= NP_001355073.1:n.246+44G=