Canonical Allele Identifier: CA363498725

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32006254C>G (hg19) ; chr6:g.32038477C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038477C>G , CM000668.2:g.32038477C>G	GRCh38
NC_000006.11:g.32006254C>G , CM000668.1:g.32006254C>G	GRCh37
NC_000006.10:g.32114233C>G	NCBI36
NG_007941.2:g.5170C>G
NG_007941.3:g.5173C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.55C>G MANE Select	ENSP00000496625.1:p.Leu19Val
ENST00000418967.6:c.55C>G	ENSP00000408860.2:p.Leu19Val
ENST00000435122.3:c.55C>G	ENSP00000415043.2:p.Leu19Val
ENST00000466779.5:c.55C>G	ENSP00000417321.1:p.Leu19Val
ENST00000469053.5:c.55C>G	ENSP00000418104.1:p.Leu19Val
ENST00000471671.4:c.55C>G	ENSP00000418561.1:p.Leu19Val
ENST00000478281.5:c.55C>G	ENSP00000419572.1:p.Leu19Val
ENST00000479074.5:n.113C>G
ENST00000479730.5:n.113C>G
ENST00000480027.1:n.108C>G
ENST00000483041.5:n.108C>G
ENST00000486063.5:n.138C>G
ENST00000488465.1:n.63C>G
NM_000500.7:c.55C>G	NP_000491.4:p.Leu19Val
NM_001128590.3:c.55C>G	NP_001122062.3:p.Leu19Val
XM_011514314.1:c.-370C>G	XP_011512616.1:n.-370C>G
NM_000500.9:c.55C>G MANE Select	NP_000491.4:p.Leu19Val
NM_001368143.1:c.-370C>G	NP_001355072.1:n.-370C>G
NM_001368144.1:c.-280C>G	NP_001355073.1:n.-280C>G
NM_001128590.4:c.55C>G	NP_001122062.3:p.Leu19Val
NM_001368143.2:c.-370C>G	NP_001355072.1:n.-370C>G
NM_001368144.2:c.-280C>G	NP_001355073.1:n.-280C>G