Canonical Allele Identifier: CA3732307

Gene: CYP21A2

Linked Data

• dbSNP Id: rs755085518
• ExAC: 6:32006588 T / A
• gnomAD v2: 6-32006588-T-A
• gnomAD v4: 6-32038811-T-A
• MyVariant Identifiers: chr6:g.32006588T>A (hg19) ; chr6:g.32038811T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038811T>A , CM000668.2:g.32038811T>A	GRCh38
NC_000006.11:g.32006588T>A , CM000668.1:g.32006588T>A	GRCh37
NC_000006.10:g.32114567T>A	NCBI36
NG_007941.2:g.5504T>A
NG_007941.3:g.5507T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.292T>A MANE Select	ENSP00000496625.1:p.Tyr98Asn
ENST00000418967.6:c.292T>A	ENSP00000408860.2:p.Tyr98Asn
ENST00000435122.3:c.202+187T>A	ENSP00000415043.2:n.202+187T>A
ENST00000464325.5:n.229T>A
ENST00000466779.5:c.292T>A	ENSP00000417321.1:p.Ser98Thr
ENST00000466879.5:n.61T>A
ENST00000469053.5:c.202+187T>A	ENSP00000418104.1:n.202+187T>A
ENST00000471671.4:c.292T>A	ENSP00000418561.1:p.Tyr98Asn
ENST00000478281.5:c.292T>A	ENSP00000419572.1:p.Phe98Ile
ENST00000479074.5:n.350T>A
ENST00000479730.5:n.447T>A
ENST00000480027.1:n.345T>A
ENST00000483041.5:n.442T>A
ENST00000486063.5:n.472T>A
ENST00000488465.1:n.300T>A
NM_000500.7:c.292T>A	NP_000491.4:p.Tyr98Asn
NM_001128590.3:c.202+187T>A	NP_001122062.3:n.202+187T>A
XM_011514314.1:c.-133T>A	XP_011512616.1:n.-133T>A
NM_000500.9:c.292T>A MANE Select	NP_000491.4:p.Tyr98Asn
NM_001368143.1:c.-133T>A	NP_001355072.1:n.-133T>A
NM_001368144.1:c.-133+187T>A	NP_001355073.1:n.-133+187T>A
NM_001128590.4:c.202+187T>A	NP_001122062.3:n.202+187T>A
NM_001368143.2:c.-133T>A	NP_001355072.1:n.-133T>A
NM_001368144.2:c.-133+187T>A	NP_001355073.1:n.-133+187T>A