Canonical Allele Identifier: CA363503099

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007211C>G (hg19) ; chr6:g.32039434C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039434C>G , CM000668.2:g.32039434C>G	GRCh38
NC_000006.11:g.32007211C>G , CM000668.1:g.32007211C>G	GRCh37
NC_000006.10:g.32115190C>G	NCBI36
NG_007941.2:g.6127C>G
NG_008337.2:g.74941G>C
NG_007941.3:g.6130C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.526C>G MANE Select	ENSP00000496625.1:p.Leu176Val
ENST00000418967.6:c.526C>G	ENSP00000408860.2:p.Leu176Val
ENST00000435122.3:c.436C>G	ENSP00000415043.2:p.Leu146Val
ENST00000462278.1:n.114C>G
ENST00000464325.5:n.447C>G
ENST00000466779.5:c.*218C>G	ENSP00000417321.1:n.*218C>G
ENST00000466879.5:n.577C>G
ENST00000469053.5:c.*218C>G	ENSP00000418104.1:n.*218C>G
ENST00000471671.4:c.526C>G	ENSP00000418561.1:p.Leu176Val
ENST00000479074.5:n.584C>G
ENST00000479730.5:n.681C>G
ENST00000483041.5:n.695C>G
ENST00000486063.5:n.706C>G
ENST00000488465.1:n.534C>G
NM_000500.7:c.526C>G	NP_000491.4:p.Leu176Val
NM_001128590.3:c.436C>G	NP_001122062.3:p.Leu146Val
XM_011514314.1:c.121C>G	XP_011512616.1:p.Leu41Val
NM_000500.9:c.526C>G MANE Select	NP_000491.4:p.Leu176Val
NM_001368143.1:c.121C>G	NP_001355072.1:p.Leu41Val
NM_001368144.1:c.121C>G	NP_001355073.1:p.Leu41Val
NM_001128590.4:c.436C>G	NP_001122062.3:p.Leu146Val
NM_001368143.2:c.121C>G	NP_001355072.1:p.Leu41Val
NM_001368144.2:c.121C>G	NP_001355073.1:p.Leu41Val