Canonical Allele Identifier: CA363501022

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 1705450
• ClinVar RCV Id: RCV002283764 ; RCV003482406
• dbSNP Id: rs1296268275
• gnomAD v2: 6-32006919-C-T
• MyVariant Identifiers: chr6:g.32006919C>T (hg19) ; chr6:g.32039142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039142C>T , CM000668.2:g.32039142C>T	GRCh38
NC_000006.11:g.32006919C>T , CM000668.1:g.32006919C>T	GRCh37
NC_000006.10:g.32114898C>T	NCBI36
NG_007941.2:g.5835C>T
NG_007941.3:g.5838C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.341C>T MANE Select	ENSP00000496625.1:p.Ser114Phe
ENST00000418967.6:c.341C>T	ENSP00000408860.2:p.Ser114Phe
ENST00000435122.3:c.251C>T	ENSP00000415043.2:p.Ser84Phe
ENST00000464325.5:n.262C>T
ENST00000466779.5:c.*33C>T	ENSP00000417321.1:n.*33C>T
ENST00000466879.5:n.392C>T
ENST00000469053.5:c.*33C>T	ENSP00000418104.1:n.*33C>T
ENST00000471671.4:c.341C>T	ENSP00000418561.1:p.Ser114Phe
ENST00000478281.5:c.374C>T	ENSP00000419572.1:p.Ser125Phe
ENST00000479074.5:n.399C>T
ENST00000479730.5:n.496C>T
ENST00000483041.5:n.510C>T
ENST00000486063.5:n.521C>T
ENST00000488465.1:n.349C>T
NM_000500.7:c.341C>T	NP_000491.4:p.Ser114Phe
NM_001128590.3:c.251C>T	NP_001122062.3:p.Ser84Phe
XM_011514314.1:c.-65C>T	XP_011512616.1:n.-65C>T
NM_000500.9:c.341C>T MANE Select	NP_000491.4:p.Ser114Phe
NM_001368143.1:c.-65C>T	NP_001355072.1:n.-65C>T
NM_001368144.1:c.-65C>T	NP_001355073.1:n.-65C>T
NM_001128590.4:c.251C>T	NP_001122062.3:p.Ser84Phe
NM_001368143.2:c.-65C>T	NP_001355072.1:n.-65C>T
NM_001368144.2:c.-65C>T	NP_001355073.1:n.-65C>T