Canonical Allele Identifier: CA363505923
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1268879450
gnomAD v2: 6-32007805-G-T
gnomAD v4: 6-32040028-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040028G>T , CM000668.2:g.32040028G>T GRCh38
NC_000006.11:g.32007805G>T , CM000668.1:g.32007805G>T GRCh37
NC_000006.10:g.32115784G>T NCBI36
NG_007941.2:g.6721G>T
NG_008337.2:g.74347C>A
NG_007941.3:g.6724G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.762G>T MANE Select ENSP00000496625.1:p.Trp254Cys
ENST00000418967.6:c.762G>T ENSP00000408860.2:p.Trp254Cys
ENST00000435122.3:c.672G>T ENSP00000415043.2:p.Trp224Cys
ENST00000479074.5:n.820G>T
ENST00000479730.5:n.878G>T
ENST00000483041.5:n.931G>T
ENST00000486063.5:n.918+193G>T
NM_000500.7:c.762G>T NP_000491.4:p.Trp254Cys
NM_001128590.3:c.672G>T NP_001122062.3:p.Trp224Cys
XM_011514314.1:c.357G>T XP_011512616.1:p.Trp119Cys
NM_000500.9:c.762G>T MANE Select NP_000491.4:p.Trp254Cys
NM_001368143.1:c.357G>T NP_001355072.1:p.Trp119Cys
NM_001368144.1:c.357G>T NP_001355073.1:p.Trp119Cys
NM_001128590.4:c.672G>T NP_001122062.3:p.Trp224Cys
NM_001368143.2:c.357G>T NP_001355072.1:p.Trp119Cys
NM_001368144.2:c.357G>T NP_001355073.1:p.Trp119Cys