Canonical Allele Identifier: CA363511936

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 1264327
• ClinVar RCV Id: RCV001667853
• dbSNP Id: rs2151876633
• MyVariant Identifiers: chr6:g.32008697G>T (hg19) ; chr6:g.32040920G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040920G>T , CM000668.2:g.32040920G>T	GRCh38
NC_000006.11:g.32008697G>T , CM000668.1:g.32008697G>T	GRCh37
NC_000006.10:g.32116676G>T	NCBI36
NG_007941.2:g.7613G>T
NG_008337.2:g.73455C>A
NG_007941.3:g.7616G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1274G>T MANE Select	ENSP00000496625.1:p.Gly425Val
ENST00000418967.6:c.1274G>T	ENSP00000408860.2:p.Gly425Val
ENST00000435122.3:c.1184G>T	ENSP00000415043.2:p.Gly395Val
ENST00000479074.5:n.1415G>T
ENST00000479730.5:n.1390G>T
ENST00000483041.5:n.1443G>T
ENST00000486063.5:n.1253G>T
NM_000500.7:c.1274G>T	NP_000491.4:p.Gly425Val
NM_001128590.3:c.1184G>T	NP_001122062.3:p.Gly395Val
XM_011514314.1:c.869G>T	XP_011512616.1:p.Gly290Val
NM_000500.9:c.1274G>T MANE Select	NP_000491.4:p.Gly425Val
NM_001368143.1:c.869G>T	NP_001355072.1:p.Gly290Val
NM_001368144.1:c.869G>T	NP_001355073.1:p.Gly290Val
NM_001128590.4:c.1184G>T	NP_001122062.3:p.Gly395Val
NM_001368143.2:c.869G>T	NP_001355072.1:p.Gly290Val
NM_001368144.2:c.869G>T	NP_001355073.1:p.Gly290Val