Canonical Allele Identifier: CA363498898

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 2573056
• ClinVar RCV Id: RCV003315170
• dbSNP Id: rs1312672769
• gnomAD v2: 6-32006290-C-T
• COSMIC: COSM3624986
• MyVariant Identifiers: chr6:g.32006290C>T (hg19) ; chr6:g.32038513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038513C>T , CM000668.2:g.32038513C>T	GRCh38
NC_000006.11:g.32006290C>T , CM000668.1:g.32006290C>T	GRCh37
NC_000006.10:g.32114269C>T	NCBI36
NG_007941.2:g.5206C>T
NG_007941.3:g.5209C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.91C>T MANE Select	ENSP00000496625.1:p.Pro31Ser
ENST00000418967.6:c.91C>T	ENSP00000408860.2:p.Pro31Ser
ENST00000435122.3:c.91C>T	ENSP00000415043.2:p.Pro31Ser
ENST00000466779.5:c.91C>T	ENSP00000417321.1:p.Pro31Ser
ENST00000469053.5:c.91C>T	ENSP00000418104.1:p.Pro31Ser
ENST00000471671.4:c.91C>T	ENSP00000418561.1:p.Pro31Ser
ENST00000478281.5:c.91C>T	ENSP00000419572.1:p.Pro31Ser
ENST00000479074.5:n.149C>T
ENST00000479730.5:n.149C>T
ENST00000480027.1:n.144C>T
ENST00000483041.5:n.144C>T
ENST00000486063.5:n.174C>T
ENST00000488465.1:n.99C>T
NM_000500.7:c.91C>T	NP_000491.4:p.Pro31Ser
NM_001128590.3:c.91C>T	NP_001122062.3:p.Pro31Ser
XM_011514314.1:c.-334C>T	XP_011512616.1:n.-334C>T
NM_000500.9:c.91C>T MANE Select	NP_000491.4:p.Pro31Ser
NM_001368143.1:c.-334C>T	NP_001355072.1:n.-334C>T
NM_001368144.1:c.-244C>T	NP_001355073.1:n.-244C>T
NM_001128590.4:c.91C>T	NP_001122062.3:p.Pro31Ser
NM_001368143.2:c.-334C>T	NP_001355072.1:n.-334C>T
NM_001368144.2:c.-244C>T	NP_001355073.1:n.-244C>T