Canonical Allele Identifier: CA2695206185
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040758dup , CM000668.2:g.32040758dup GRCh38
NC_000006.11:g.32008535dup , CM000668.1:g.32008535dup GRCh37
NC_000006.10:g.32116514dup NCBI36
NG_007941.2:g.7451dup
NG_008337.2:g.73617dup
NG_007941.3:g.7454dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1209dup MANE Select ENSP00000496625.1:p.Glu404Ter
ENST00000418967.6:c.1209dup ENSP00000408860.2:p.Glu404Ter
ENST00000435122.3:c.1119dup ENSP00000415043.2:p.Glu374Ter
ENST00000479074.5:n.1350dup
ENST00000479730.5:n.1325dup
ENST00000483041.5:n.1378dup
ENST00000486063.5:n.1188dup
NM_000500.7:c.1209dup NP_000491.4:p.Glu404Ter
NM_001128590.3:c.1119dup NP_001122062.3:p.Glu374Ter
XM_011514314.1:c.804dup XP_011512616.1:p.Glu269Ter
NM_000500.9:c.1209dup MANE Select NP_000491.4:p.Glu404Ter
NM_001368143.1:c.804dup NP_001355072.1:p.Glu269Ter
NM_001368144.1:c.804dup NP_001355073.1:p.Glu269Ter
NM_001128590.4:c.1119dup NP_001122062.3:p.Glu374Ter
NM_001368143.2:c.804dup NP_001355072.1:p.Glu269Ter
NM_001368144.2:c.804dup NP_001355073.1:p.Glu269Ter