Canonical Allele Identifier: CA121919
Gene: CYP21A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12151
dbSNP Id: rs6471
gnomAD v2: 6-32007887-G-T
gnomAD v3: 6-32040110-G-T
gnomAD v4: 6-32040110-G-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.844G>T MANE Select ENSP00000496625.1:p.Val282Leu
ENST00000418967.6:c.844G>T ENSP00000408860.2:p.Val282Leu
ENST00000435122.3:c.754G>T ENSP00000415043.2:p.Val252Leu
ENST00000479074.5:n.902G>T
ENST00000479730.5:n.960G>T
ENST00000483041.5:n.1013G>T
ENST00000486063.5:n.918+275G>T
NM_000500.7:c.844G>T NP_000491.4:p.Val282Leu
NM_001128590.3:c.754G>T NP_001122062.3:p.Val252Leu
XM_011514314.1:c.439G>T XP_011512616.1:p.Val147Leu
NM_000500.9:c.844G>T MANE Select NP_000491.4:p.Val282Leu
NM_001368143.1:c.439G>T NP_001355072.1:p.Val147Leu
NM_001368144.1:c.439G>T NP_001355073.1:p.Val147Leu
NM_001128590.4:c.754G>T NP_001122062.3:p.Val252Leu
NM_001368143.2:c.439G>T NP_001355072.1:p.Val147Leu
NM_001368144.2:c.439G>T NP_001355073.1:p.Val147Leu