Canonical Allele Identifier: CA2678088292
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32039330-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039330G>C , CM000668.2:g.32039330G>C GRCh38
NC_000006.11:g.32007107G>C , CM000668.1:g.32007107G>C GRCh37
NC_000006.10:g.32115086G>C NCBI36
NG_007941.2:g.6023G>C
NG_008337.2:g.75045C>G
NG_007941.3:g.6026G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.448-26G>C MANE Select ENSP00000496625.1:n.448-26G>C
ENST00000418967.6:c.448-26G>C ENSP00000408860.2:n.448-26G>C
ENST00000435122.3:c.358-26G>C ENSP00000415043.2:n.358-26G>C
ENST00000462278.1:n.36-26G>C
ENST00000464325.5:n.369-26G>C
ENST00000466779.5:c.*140-26G>C ENSP00000417321.1:n.*140-26G>C
ENST00000466879.5:n.499-26G>C
ENST00000469053.5:c.*140-26G>C ENSP00000418104.1:n.*140-26G>C
ENST00000471671.4:c.448-26G>C ENSP00000418561.1:n.448-26G>C
ENST00000478281.5:c.481-26G>C ENSP00000419572.1:n.481-26G>C
ENST00000479074.5:n.506-26G>C
ENST00000479730.5:n.603-26G>C
ENST00000483041.5:n.617-26G>C
ENST00000486063.5:n.628-26G>C
ENST00000488465.1:n.456-26G>C
NM_000500.7:c.448-26G>C NP_000491.4:n.448-26G>C
NM_001128590.3:c.358-26G>C NP_001122062.3:n.358-26G>C
XM_011514314.1:c.43-26G>C XP_011512616.1:n.43-26G>C
NM_000500.9:c.448-26G>C MANE Select NP_000491.4:n.448-26G>C
NM_001368143.1:c.43-26G>C NP_001355072.1:n.43-26G>C
NM_001368144.1:c.43-26G>C NP_001355073.1:n.43-26G>C
NM_001128590.4:c.358-26G>C NP_001122062.3:n.358-26G>C
NM_001368143.2:c.43-26G>C NP_001355072.1:n.43-26G>C
NM_001368144.2:c.43-26G>C NP_001355073.1:n.43-26G>C