Canonical Allele Identifier: CA363503894

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1291526406
• gnomAD v2: 6-32007378-G-A
• gnomAD v4: 6-32039601-G-A
• MyVariant Identifiers: chr6:g.32007378G>A (hg19) ; chr6:g.32039601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039601G>A , CM000668.2:g.32039601G>A	GRCh38
NC_000006.11:g.32007378G>A , CM000668.1:g.32007378G>A	GRCh37
NC_000006.10:g.32115357G>A	NCBI36
NG_007941.2:g.6294G>A
NG_008337.2:g.74774C>T
NG_007941.3:g.6297G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.605G>A MANE Select	ENSP00000496625.1:p.Trp202Ter
ENST00000418967.6:c.605G>A	ENSP00000408860.2:p.Trp202Ter
ENST00000435122.3:c.515G>A	ENSP00000415043.2:p.Trp172Ter
ENST00000462278.1:n.193G>A
ENST00000464325.5:n.526G>A
ENST00000466779.5:c.*297G>A	ENSP00000417321.1:n.*297G>A
ENST00000466879.5:n.656G>A
ENST00000469053.5:c.*297G>A	ENSP00000418104.1:n.*297G>A
ENST00000471671.4:c.566G>A	ENSP00000418561.1:p.Trp189Ter
ENST00000479074.5:n.663G>A
ENST00000479730.5:n.721G>A
ENST00000483041.5:n.774G>A
ENST00000486063.5:n.785G>A
NM_000500.7:c.605G>A	NP_000491.4:p.Trp202Ter
NM_001128590.3:c.515G>A	NP_001122062.3:p.Trp172Ter
XM_011514314.1:c.200G>A	XP_011512616.1:p.Trp67Ter
NM_000500.9:c.605G>A MANE Select	NP_000491.4:p.Trp202Ter
NM_001368143.1:c.200G>A	NP_001355072.1:p.Trp67Ter
NM_001368144.1:c.200G>A	NP_001355073.1:p.Trp67Ter
NM_001128590.4:c.515G>A	NP_001122062.3:p.Trp172Ter
NM_001368143.2:c.200G>A	NP_001355072.1:p.Trp67Ter
NM_001368144.2:c.200G>A	NP_001355073.1:p.Trp67Ter