Canonical Allele Identifier: CA363511029

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32008280T>G (hg19) ; chr6:g.32040503T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040503T>G , CM000668.2:g.32040503T>G	GRCh38
NC_000006.11:g.32008280T>G , CM000668.1:g.32008280T>G	GRCh37
NC_000006.10:g.32116259T>G	NCBI36
NG_007941.2:g.7196T>G
NG_008337.2:g.73872A>C
NG_007941.3:g.7199T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1037T>G MANE Select	ENSP00000496625.1:p.Leu346Arg
ENST00000418967.6:c.1037T>G	ENSP00000408860.2:p.Leu346Arg
ENST00000435122.3:c.947T>G	ENSP00000415043.2:p.Leu316Arg
ENST00000479074.5:n.1095T>G
ENST00000479730.5:n.1153T>G
ENST00000483041.5:n.1206T>G
ENST00000486063.5:n.1016T>G
NM_000500.7:c.1037T>G	NP_000491.4:p.Leu346Arg
NM_001128590.3:c.947T>G	NP_001122062.3:p.Leu316Arg
XM_011514314.1:c.632T>G	XP_011512616.1:p.Leu211Arg
NM_000500.9:c.1037T>G MANE Select	NP_000491.4:p.Leu346Arg
NM_001368143.1:c.632T>G	NP_001355072.1:p.Leu211Arg
NM_001368144.1:c.632T>G	NP_001355073.1:p.Leu211Arg
NM_001128590.4:c.947T>G	NP_001122062.3:p.Leu316Arg
NM_001368143.2:c.632T>G	NP_001355072.1:p.Leu211Arg
NM_001368144.2:c.632T>G	NP_001355073.1:p.Leu211Arg