Canonical Allele Identifier: CA363499372

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 988420
• ClinVar RCV Id: RCV001269767
• dbSNP Id: rs1413433421
• gnomAD v2: 6-32006368-G-A
• gnomAD v4: 6-32038591-G-A
• MyVariant Identifiers: chr6:g.32006368G>A (hg19) ; chr6:g.32038591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038591G>A , CM000668.2:g.32038591G>A	GRCh38
NC_000006.11:g.32006368G>A , CM000668.1:g.32006368G>A	GRCh37
NC_000006.10:g.32114347G>A	NCBI36
NG_007941.2:g.5284G>A
NG_007941.3:g.5287G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.169G>A MANE Select	ENSP00000496625.1:p.Gly57Arg
ENST00000418967.6:c.169G>A	ENSP00000408860.2:p.Gly57Arg
ENST00000435122.3:c.169G>A	ENSP00000415043.2:p.Gly57Arg
ENST00000464325.5:n.9G>A
ENST00000466779.5:c.169G>A	ENSP00000417321.1:p.Gly57Arg
ENST00000469053.5:c.169G>A	ENSP00000418104.1:p.Gly57Arg
ENST00000471671.4:c.169G>A	ENSP00000418561.1:p.Gly57Arg
ENST00000478281.5:c.169G>A	ENSP00000419572.1:p.Gly57Arg
ENST00000479074.5:n.227G>A
ENST00000479730.5:n.227G>A
ENST00000480027.1:n.222G>A
ENST00000483041.5:n.222G>A
ENST00000486063.5:n.252G>A
ENST00000488465.1:n.177G>A
NM_000500.7:c.169G>A	NP_000491.4:p.Gly57Arg
NM_001128590.3:c.169G>A	NP_001122062.3:p.Gly57Arg
XM_011514314.1:c.-256G>A	XP_011512616.1:n.-256G>A
NM_000500.9:c.169G>A MANE Select	NP_000491.4:p.Gly57Arg
NM_001368143.1:c.-256G>A	NP_001355072.1:n.-256G>A
NM_001368144.1:c.-166G>A	NP_001355073.1:n.-166G>A
NM_001128590.4:c.169G>A	NP_001122062.3:p.Gly57Arg
NM_001368143.2:c.-256G>A	NP_001355072.1:n.-256G>A
NM_001368144.2:c.-166G>A	NP_001355073.1:n.-166G>A