Canonical Allele Identifier: CA363501600

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1215963909
• gnomAD v2: 6-32006982-C-T
• gnomAD v4: 6-32039205-C-T
• MyVariant Identifiers: chr6:g.32006982C>T (hg19) ; chr6:g.32039205C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039205C>T , CM000668.2:g.32039205C>T	GRCh38
NC_000006.11:g.32006982C>T , CM000668.1:g.32006982C>T	GRCh37
NC_000006.10:g.32114961C>T	NCBI36
NG_007941.2:g.5898C>T
NG_008337.2:g.75170G>A
NG_007941.3:g.5901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.404C>T MANE Select	ENSP00000496625.1:p.Ser135Phe
ENST00000418967.6:c.404C>T	ENSP00000408860.2:p.Ser135Phe
ENST00000435122.3:c.314C>T	ENSP00000415043.2:p.Ser105Phe
ENST00000464325.5:n.325C>T
ENST00000466779.5:c.*96C>T	ENSP00000417321.1:n.*96C>T
ENST00000466879.5:n.455C>T
ENST00000469053.5:c.*96C>T	ENSP00000418104.1:n.*96C>T
ENST00000471671.4:c.404C>T	ENSP00000418561.1:p.Ser135Phe
ENST00000478281.5:c.437C>T	ENSP00000419572.1:p.Ser146Phe
ENST00000479074.5:n.462C>T
ENST00000479730.5:n.559C>T
ENST00000483041.5:n.573C>T
ENST00000486063.5:n.584C>T
ENST00000488465.1:n.412C>T
NM_000500.7:c.404C>T	NP_000491.4:p.Ser135Phe
NM_001128590.3:c.314C>T	NP_001122062.3:p.Ser105Phe
XM_011514314.1:c.-2C>T	XP_011512616.1:n.-2C>T
NM_000500.9:c.404C>T MANE Select	NP_000491.4:p.Ser135Phe
NM_001368143.1:c.-2C>T	NP_001355072.1:n.-2C>T
NM_001368144.1:c.-2C>T	NP_001355073.1:n.-2C>T
NM_001128590.4:c.314C>T	NP_001122062.3:p.Ser105Phe
NM_001368143.2:c.-2C>T	NP_001355072.1:n.-2C>T
NM_001368144.2:c.-2C>T	NP_001355073.1:n.-2C>T