Canonical Allele Identifier: CA1619397319
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040110G= , CM000668.2:g.32040110G= GRCh38
NC_000006.11:g.32007887G= , CM000668.1:g.32007887G= GRCh37
NC_000006.10:g.32115866G= NCBI36
NG_007941.2:g.6803G=
NG_008337.2:g.74265C=
NG_007941.3:g.6806G=

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.844G= MANE Select ENSP00000496625.1:p.Val282=
ENST00000418967.6:c.844G= ENSP00000408860.2:p.Val282=
ENST00000435122.3:c.754G= ENSP00000415043.2:p.Val252=
ENST00000479074.5:n.902G=
ENST00000479730.5:n.960G=
ENST00000483041.5:n.1013G=
ENST00000486063.5:n.918+275G=
NM_000500.7:c.844G= NP_000491.4:p.Val282=
NM_001128590.3:c.754G= NP_001122062.3:p.Val252=
XM_011514314.1:c.439G= XP_011512616.1:p.Val147=
NM_000500.9:c.844G= MANE Select NP_000491.4:p.Val282=
NM_001368143.1:c.439G= NP_001355072.1:p.Val147=
NM_001368144.1:c.439G= NP_001355073.1:p.Val147=
NM_001128590.4:c.754G= NP_001122062.3:p.Val252=
NM_001368143.2:c.439G= NP_001355072.1:p.Val147=
NM_001368144.2:c.439G= NP_001355073.1:p.Val147=