Canonical Allele Identifier: CA449729889

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007970T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040193T>G , CM000668.2:g.32040193T>G	GRCh38
NC_000006.11:g.32007970T>G , CM000668.1:g.32007970T>G	GRCh37
NC_000006.10:g.32115949T>G	NCBI36
NG_007941.2:g.6886T>G
NG_008337.2:g.74182A>C
NG_007941.3:g.6889T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.927T>G MANE Select	ENSP00000496625.1:p.Leu309=
ENST00000418967.6:c.927T>G	ENSP00000408860.2:p.Leu309=
ENST00000435122.3:c.837T>G	ENSP00000415043.2:p.Leu279=
ENST00000479074.5:n.985T>G
ENST00000479730.5:n.1043T>G
ENST00000483041.5:n.1096T>G
ENST00000486063.5:n.919-213T>G
NM_000500.7:c.927T>G	NP_000491.4:p.Leu309=
NM_001128590.3:c.837T>G	NP_001122062.3:p.Leu279=
XM_011514314.1:c.522T>G	XP_011512616.1:p.Leu174=
NM_000500.9:c.927T>G MANE Select	NP_000491.4:p.Leu309=
NM_001368143.1:c.522T>G	NP_001355072.1:p.Leu174=
NM_001368144.1:c.522T>G	NP_001355073.1:p.Leu174=
NM_001128590.4:c.837T>G	NP_001122062.3:p.Leu279=
NM_001368143.2:c.522T>G	NP_001355072.1:p.Leu174=
NM_001368144.2:c.522T>G	NP_001355073.1:p.Leu174=