Canonical Allele Identifier: CA2573102332

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 12158
• ClinVar RCV Id: RCV000012942

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[32038419C>T;32039118C>T;32041006C>T] , CM000668.2:g.[32038419C>T;32039118C>T;32041006C>T]	GRCh38
NC_000006.11:g.[32006196C>T;32006895C>T;32008783C>T] , CM000668.1:g.[32006196C>T;32006895C>T;32008783C>T]	GRCh37
NC_000006.10:g.[32114175C>T;32114874C>T;32116762C>T]	NCBI36
NG_007941.2:g.[5115C>T;5811C>T;7699C>T]
NG_007941.3:g.[5115C>T;5814C>T;7702C>T]

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.[-4C>T;317C>T;1360C>T] MANE Select	ENSP00000496625.1:p.[Pro106Leu;Pro454Ser]
ENST00000418967.6:c.[-4C>T;317C>T;1360C>T]	ENSP00000408860.2:p.[Pro106Leu;Pro454Ser]
ENST00000435122.3:c.[-4C>T;227C>T;1270C>T]	ENSP00000415043.2:p.[Pro76Leu;Pro424Ser]
ENST00000479074.5:n.[55C>T;375C>T;1501C>T]
ENST00000479730.5:n.[55C>T;472C>T;1476C>T]
ENST00000483041.5:n.[50C>T;486C>T;1529C>T]
ENST00000486063.5:n.[80C>T;497C>T;1339C>T]
NM_000500.7:c.[-4C>T;317C>T;1360C>T]	NP_000491.4:p.[Pro106Leu;Pro454Ser]
NM_001128590.3:c.[-4C>T;227C>T;1270C>T]	NP_001122062.3:p.[Pro76Leu;Pro424Ser]
XM_011514314.1:c.[-428C>T;-89C>T;955C>T]	XP_011512616.1:p.Pro319Ser
NM_000500.9:c.[-4C>T;317C>T;1360C>T] MANE Select	NP_000491.4:p.[Pro106Leu;Pro454Ser]
NM_001368143.1:c.[-428C>T;-89C>T;955C>T]	NP_001355072.1:p.Pro319Ser
NM_001368144.1:c.[-338C>T;-89C>T;955C>T]	NP_001355073.1:p.Pro319Ser
NM_001128590.4:c.[-4C>T;227C>T;1270C>T]	NP_001122062.3:p.[Pro76Leu;Pro424Ser]
NM_001368143.2:c.[-428C>T;-89C>T;955C>T]	NP_001355072.1:p.Pro319Ser
NM_001368144.2:c.[-338C>T;-89C>T;955C>T]	NP_001355073.1:p.Pro319Ser