Canonical Allele Identifier: CA363504011

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 1705550
• ClinVar RCV Id: RCV002283864
• gnomAD v4: 6-32039610-G-A
• MyVariant Identifiers: chr6:g.32007387G>A (hg19) ; chr6:g.32039610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039610G>A , CM000668.2:g.32039610G>A	GRCh38
NC_000006.11:g.32007387G>A , CM000668.1:g.32007387G>A	GRCh37
NC_000006.10:g.32115366G>A	NCBI36
NG_007941.2:g.6303G>A
NG_008337.2:g.74765C>T
NG_007941.3:g.6306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.614G>A MANE Select	ENSP00000496625.1:p.Trp205Ter
ENST00000418967.6:c.614G>A	ENSP00000408860.2:p.Trp205Ter
ENST00000435122.3:c.524G>A	ENSP00000415043.2:p.Trp175Ter
ENST00000462278.1:n.202G>A
ENST00000464325.5:n.535G>A
ENST00000466779.5:c.*306G>A	ENSP00000417321.1:n.*306G>A
ENST00000466879.5:n.665G>A
ENST00000469053.5:c.*306G>A	ENSP00000418104.1:n.*306G>A
ENST00000479074.5:n.672G>A
ENST00000479730.5:n.730G>A
ENST00000483041.5:n.783G>A
ENST00000486063.5:n.794G>A
NM_000500.7:c.614G>A	NP_000491.4:p.Trp205Ter
NM_001128590.3:c.524G>A	NP_001122062.3:p.Trp175Ter
XM_011514314.1:c.209G>A	XP_011512616.1:p.Trp70Ter
NM_000500.9:c.614G>A MANE Select	NP_000491.4:p.Trp205Ter
NM_001368143.1:c.209G>A	NP_001355072.1:p.Trp70Ter
NM_001368144.1:c.209G>A	NP_001355073.1:p.Trp70Ter
NM_001128590.4:c.524G>A	NP_001122062.3:p.Trp175Ter
NM_001368143.2:c.209G>A	NP_001355072.1:p.Trp70Ter
NM_001368144.2:c.209G>A	NP_001355073.1:p.Trp70Ter