Canonical Allele Identifier: CA344933
Gene: CYP21A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65610
ClinVar RCV Id: RCV000055820
dbSNP Id: rs6471

Genomic Alleles

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

Transcript Alleles

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