Canonical Allele Identifier: CA915944189
Gene: CYP21A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 800588
ClinVar RCV Id: RCV000984566
dbSNP Id: rs1382005578

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038999G>C , CM000668.2:g.32038999G>C GRCh38
NC_000006.11:g.32006776G>C , CM000668.1:g.32006776G>C GRCh37
NC_000006.10:g.32114755G>C NCBI36
NG_007941.2:g.5692G>C
NG_007941.3:g.5695G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.293-95G>C MANE Select ENSP00000496625.1:n.293-95G>C
ENST00000418967.6:c.293-95G>C ENSP00000408860.2:n.293-95G>C
ENST00000435122.3:c.203-95G>C ENSP00000415043.2:n.203-95G>C
ENST00000464325.5:n.230-111G>C
ENST00000466779.5:c.293-76G>C ENSP00000417321.1:n.293-76G>C
ENST00000466879.5:n.249G>C
ENST00000469053.5:c.203-76G>C ENSP00000418104.1:n.203-76G>C
ENST00000471671.4:c.293-95G>C ENSP00000418561.1:n.293-95G>C
ENST00000478281.5:c.293-62G>C ENSP00000419572.1:n.293-62G>C
ENST00000479074.5:n.351-95G>C
ENST00000479730.5:n.448-95G>C
ENST00000480027.1:n.533G>C
ENST00000483041.5:n.443-76G>C
ENST00000486063.5:n.473-95G>C
ENST00000488465.1:n.301-95G>C
NM_000500.7:c.293-95G>C NP_000491.4:n.293-95G>C
NM_001128590.3:c.203-95G>C NP_001122062.3:n.203-95G>C
XM_011514314.1:c.-132-76G>C XP_011512616.1:n.-132-76G>C
NM_000500.9:c.293-95G>C MANE Select NP_000491.4:n.293-95G>C
NM_001368143.1:c.-132-76G>C NP_001355072.1:n.-132-76G>C
NM_001368144.1:c.-132-76G>C NP_001355073.1:n.-132-76G>C
NM_001128590.4:c.203-95G>C NP_001122062.3:n.203-95G>C
NM_001368143.2:c.-132-76G>C NP_001355072.1:n.-132-76G>C
NM_001368144.2:c.-132-76G>C NP_001355073.1:n.-132-76G>C