Canonical Allele Identifier: CA136893655
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs186816029
gnomAD v2: 6-32006767-G-T
gnomAD v3: 6-32038990-G-T
gnomAD v4: 6-32038990-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038990G>T , CM000668.2:g.32038990G>T GRCh38
NC_000006.11:g.32006767G>T , CM000668.1:g.32006767G>T GRCh37
NC_000006.10:g.32114746G>T NCBI36
NG_007941.2:g.5683G>T
NG_007941.3:g.5686G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.293-104G>T MANE Select ENSP00000496625.1:n.293-104G>T
ENST00000418967.6:c.293-104G>T ENSP00000408860.2:n.293-104G>T
ENST00000435122.3:c.203-104G>T ENSP00000415043.2:n.203-104G>T
ENST00000464325.5:n.230-120G>T
ENST00000466779.5:c.293-85G>T ENSP00000417321.1:n.293-85G>T
ENST00000466879.5:n.240G>T
ENST00000469053.5:c.203-85G>T ENSP00000418104.1:n.203-85G>T
ENST00000471671.4:c.293-104G>T ENSP00000418561.1:n.293-104G>T
ENST00000478281.5:c.293-71G>T ENSP00000419572.1:n.293-71G>T
ENST00000479074.5:n.351-104G>T
ENST00000479730.5:n.448-104G>T
ENST00000480027.1:n.524G>T
ENST00000483041.5:n.443-85G>T
ENST00000486063.5:n.473-104G>T
ENST00000488465.1:n.301-104G>T
NM_000500.7:c.293-104G>T NP_000491.4:n.293-104G>T
NM_001128590.3:c.203-104G>T NP_001122062.3:n.203-104G>T
XM_011514314.1:c.-132-85G>T XP_011512616.1:n.-132-85G>T
NM_000500.9:c.293-104G>T MANE Select NP_000491.4:n.293-104G>T
NM_001368143.1:c.-132-85G>T NP_001355072.1:n.-132-85G>T
NM_001368144.1:c.-132-85G>T NP_001355073.1:n.-132-85G>T
NM_001128590.4:c.203-104G>T NP_001122062.3:n.203-104G>T
NM_001368143.2:c.-132-85G>T NP_001355072.1:n.-132-85G>T
NM_001368144.2:c.-132-85G>T NP_001355073.1:n.-132-85G>T