Canonical Allele Identifier: CA239136

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 193595
• ClinVar RCV Id: RCV000173700 ; RCV000987670
• dbSNP Id: rs767333157
• ExAC: 6:32008729 C / T
• gnomAD v2: 6-32008729-C-T
• gnomAD v3: 6-32040952-C-T
• gnomAD v4: 6-32040952-C-T
• COSMIC: COSM6375257
• MyVariant Identifiers: chr6:g.32008729C>T (hg19) ; chr6:g.32040952C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040952C>T , CM000668.2:g.32040952C>T	GRCh38
NC_000006.11:g.32008729C>T , CM000668.1:g.32008729C>T	GRCh37
NC_000006.10:g.32116708C>T	NCBI36
NG_007941.2:g.7645C>T
NG_008337.2:g.73423G>A
NG_007941.3:g.7648C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1306C>T MANE Select	ENSP00000496625.1:p.Arg436Cys
ENST00000418967.6:c.1306C>T	ENSP00000408860.2:p.Arg436Cys
ENST00000435122.3:c.1216C>T	ENSP00000415043.2:p.Arg406Cys
ENST00000479074.5:n.1447C>T
ENST00000479730.5:n.1422C>T
ENST00000483041.5:n.1475C>T
ENST00000486063.5:n.1285C>T
NM_000500.7:c.1306C>T	NP_000491.4:p.Arg436Cys
NM_001128590.3:c.1216C>T	NP_001122062.3:p.Arg406Cys
XM_011514314.1:c.901C>T	XP_011512616.1:p.Arg301Cys
NM_000500.9:c.1306C>T MANE Select	NP_000491.4:p.Arg436Cys
NM_001368143.1:c.901C>T	NP_001355072.1:p.Arg301Cys
NM_001368144.1:c.901C>T	NP_001355073.1:p.Arg301Cys
NM_001128590.4:c.1216C>T	NP_001122062.3:p.Arg406Cys
NM_001368143.2:c.901C>T	NP_001355072.1:p.Arg301Cys
NM_001368144.2:c.901C>T	NP_001355073.1:p.Arg301Cys