Canonical Allele Identifier: CA566694935
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1311155385
gnomAD v2: 6-32008152-T-G
gnomAD v4: 6-32040375-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040375T>G , CM000668.2:g.32040375T>G GRCh38
NC_000006.11:g.32008152T>G , CM000668.1:g.32008152T>G GRCh37
NC_000006.10:g.32116131T>G NCBI36
NG_007941.2:g.7068T>G
NG_008337.2:g.74000A>C
NG_007941.3:g.7071T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.940-31T>G MANE Select ENSP00000496625.1:n.940-31T>G
ENST00000418967.6:c.940-31T>G ENSP00000408860.2:n.940-31T>G
ENST00000435122.3:c.850-31T>G ENSP00000415043.2:n.850-31T>G
ENST00000479074.5:n.998-31T>G
ENST00000479730.5:n.1056-31T>G
ENST00000483041.5:n.1109-31T>G
ENST00000486063.5:n.919-31T>G
NM_000500.7:c.940-31T>G NP_000491.4:n.940-31T>G
NM_001128590.3:c.850-31T>G NP_001122062.3:n.850-31T>G
XM_011514314.1:c.535-31T>G XP_011512616.1:n.535-31T>G
NM_000500.9:c.940-31T>G MANE Select NP_000491.4:n.940-31T>G
NM_001368143.1:c.535-31T>G NP_001355072.1:n.535-31T>G
NM_001368144.1:c.535-31T>G NP_001355073.1:n.535-31T>G
NM_001128590.4:c.850-31T>G NP_001122062.3:n.850-31T>G
NM_001368143.2:c.535-31T>G NP_001355072.1:n.535-31T>G
NM_001368144.2:c.535-31T>G NP_001355073.1:n.535-31T>G