Canonical Allele Identifier: CA2578617972
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038849-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038849T>G , CM000668.2:g.32038849T>G GRCh38
NC_000006.11:g.32006626T>G , CM000668.1:g.32006626T>G GRCh37
NC_000006.10:g.32114605T>G NCBI36
NG_007941.2:g.5542T>G
NG_007941.3:g.5545T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.292+38T>G MANE Select ENSP00000496625.1:n.292+38T>G
ENST00000418967.6:c.292+38T>G ENSP00000408860.2:n.292+38T>G
ENST00000435122.3:c.202+225T>G ENSP00000415043.2:n.202+225T>G
ENST00000464325.5:n.229+38T>G
ENST00000466779.5:c.292+38T>G ENSP00000417321.1:n.292+38T>G
ENST00000466879.5:n.99T>G
ENST00000469053.5:c.203-226T>G ENSP00000418104.1:n.203-226T>G
ENST00000471671.4:c.292+38T>G ENSP00000418561.1:n.292+38T>G
ENST00000478281.5:c.292+38T>G ENSP00000419572.1:n.292+38T>G
ENST00000479074.5:n.350+38T>G
ENST00000479730.5:n.447+38T>G
ENST00000480027.1:n.383T>G
ENST00000483041.5:n.442+38T>G
ENST00000486063.5:n.472+38T>G
ENST00000488465.1:n.300+38T>G
NM_000500.7:c.292+38T>G NP_000491.4:n.292+38T>G
NM_001128590.3:c.202+225T>G NP_001122062.3:n.202+225T>G
XM_011514314.1:c.-133+38T>G XP_011512616.1:n.-133+38T>G
NM_000500.9:c.292+38T>G MANE Select NP_000491.4:n.292+38T>G
NM_001368143.1:c.-133+38T>G NP_001355072.1:n.-133+38T>G
NM_001368144.1:c.-132-226T>G NP_001355073.1:n.-132-226T>G
NM_001128590.4:c.202+225T>G NP_001122062.3:n.202+225T>G
NM_001368143.2:c.-133+38T>G NP_001355072.1:n.-133+38T>G
NM_001368144.2:c.-132-226T>G NP_001355073.1:n.-132-226T>G