Canonical Allele Identifier: CA3732401

Gene: CYP21A2

Linked Data

• dbSNP Id: rs559028738
• ExAC: 6:32007114 T / G
• gnomAD v2: 6-32007114-T-G
• gnomAD v3: 6-32039337-T-G
• gnomAD v4: 6-32039337-T-G
• MyVariant Identifiers: chr6:g.32007114T>G (hg19) ; chr6:g.32039337T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039337T>G , CM000668.2:g.32039337T>G	GRCh38
NC_000006.11:g.32007114T>G , CM000668.1:g.32007114T>G	GRCh37
NC_000006.10:g.32115093T>G	NCBI36
NG_007941.2:g.6030T>G
NG_008337.2:g.75038A>C
NG_007941.3:g.6033T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.448-19T>G MANE Select	ENSP00000496625.1:n.448-19T>G
ENST00000418967.6:c.448-19T>G	ENSP00000408860.2:n.448-19T>G
ENST00000435122.3:c.358-19T>G	ENSP00000415043.2:n.358-19T>G
ENST00000462278.1:n.36-19T>G
ENST00000464325.5:n.369-19T>G
ENST00000466779.5:c.*140-19T>G	ENSP00000417321.1:n.*140-19T>G
ENST00000466879.5:n.499-19T>G
ENST00000469053.5:c.*140-19T>G	ENSP00000418104.1:n.*140-19T>G
ENST00000471671.4:c.448-19T>G	ENSP00000418561.1:n.448-19T>G
ENST00000478281.5:c.481-19T>G	ENSP00000419572.1:n.481-19T>G
ENST00000479074.5:n.506-19T>G
ENST00000479730.5:n.603-19T>G
ENST00000483041.5:n.617-19T>G
ENST00000486063.5:n.628-19T>G
ENST00000488465.1:n.456-19T>G
NM_000500.7:c.448-19T>G	NP_000491.4:n.448-19T>G
NM_001128590.3:c.358-19T>G	NP_001122062.3:n.358-19T>G
XM_011514314.1:c.43-19T>G	XP_011512616.1:n.43-19T>G
NM_000500.9:c.448-19T>G MANE Select	NP_000491.4:n.448-19T>G
NM_001368143.1:c.43-19T>G	NP_001355072.1:n.43-19T>G
NM_001368144.1:c.43-19T>G	NP_001355073.1:n.43-19T>G
NM_001128590.4:c.358-19T>G	NP_001122062.3:n.358-19T>G
NM_001368143.2:c.43-19T>G	NP_001355072.1:n.43-19T>G
NM_001368144.2:c.43-19T>G	NP_001355073.1:n.43-19T>G