Canonical Allele Identifier: CA2573102333

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 12170
• ClinVar RCV Id: RCV000012952

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[32040485G>A;32041006C>T] , CM000668.2:g.[32040485G>A;32041006C>T]	GRCh38
NC_000006.11:g.[32008262G>A;32008783C>T] , CM000668.1:g.[32008262G>A;32008783C>T]	GRCh37
NC_000006.10:g.[32116241G>A;32116762C>T]	NCBI36
NG_007941.2:g.[7178G>A;7699C>T]
NG_008337.2:g.[73369G>A;73890C>T]
NG_007941.3:g.[7181G>A;7702C>T]

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.[1019G>A;1360C>T] MANE Select	ENSP00000496625.1:p.[Arg340His;Pro454Ser]...
ENST00000418967.6:c.[1019G>A;1360C>T]	ENSP00000408860.2:p.[Arg340His;Pro454Ser]...
ENST00000435122.3:c.[929G>A;1270C>T]	ENSP00000415043.2:p.[Arg310His;Pro424Ser]...
ENST00000479074.5:n.[1077G>A;1501C>T]
ENST00000479730.5:n.[1135G>A;1476C>T]
ENST00000483041.5:n.[1188G>A;1529C>T]
ENST00000486063.5:n.[998G>A;1339C>T]
NM_000500.7:c.[1019G>A;1360C>T]	NP_000491.4:p.[Arg340His;Pro454Ser]
NM_001128590.3:c.[929G>A;1270C>T]	NP_001122062.3:p.[Arg310His;Pro424Ser]
XM_011514314.1:c.[614G>A;955C>T]	XP_011512616.1:p.[Arg205His;Pro319Ser]
NM_000500.9:c.[1019G>A;1360C>T] MANE Select	NP_000491.4:p.[Arg340His;Pro454Ser]
NM_001368143.1:c.[614G>A;955C>T]	NP_001355072.1:p.[Arg205His;Pro319Ser]
NM_001368144.1:c.[614G>A;955C>T]	NP_001355073.1:p.[Arg205His;Pro319Ser]
NM_001128590.4:c.[929G>A;1270C>T]	NP_001122062.3:p.[Arg310His;Pro424Ser]
NM_001368143.2:c.[614G>A;955C>T]	NP_001355072.1:p.[Arg205His;Pro319Ser]
NM_001368144.2:c.[614G>A;955C>T]	NP_001355073.1:p.[Arg205His;Pro319Ser]