Canonical Allele Identifier: CA449818582

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007421C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039644C>G , CM000668.2:g.32039644C>G	GRCh38
NC_000006.11:g.32007421C>G , CM000668.1:g.32007421C>G	GRCh37
NC_000006.10:g.32115400C>G	NCBI36
NG_007941.2:g.6337C>G
NG_008337.2:g.74731G>C
NG_007941.3:g.6340C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.648C>G MANE Select	ENSP00000496625.1:p.Leu216=
ENST00000418967.6:c.648C>G	ENSP00000408860.2:p.Leu216=
ENST00000435122.3:c.558C>G	ENSP00000415043.2:p.Leu186=
ENST00000462278.1:n.236C>G
ENST00000464325.5:n.569C>G
ENST00000466779.5:c.*340C>G	ENSP00000417321.1:n.*340C>G
ENST00000466879.5:n.699C>G
ENST00000479074.5:n.706C>G
ENST00000479730.5:n.764C>G
ENST00000483041.5:n.817C>G
ENST00000486063.5:n.828C>G
NM_000500.7:c.648C>G	NP_000491.4:p.Leu216=
NM_001128590.3:c.558C>G	NP_001122062.3:p.Leu186=
XM_011514314.1:c.243C>G	XP_011512616.1:p.Leu81=
NM_000500.9:c.648C>G MANE Select	NP_000491.4:p.Leu216=
NM_001368143.1:c.243C>G	NP_001355072.1:p.Leu81=
NM_001368144.1:c.243C>G	NP_001355073.1:p.Leu81=
NM_001128590.4:c.558C>G	NP_001122062.3:p.Leu186=
NM_001368143.2:c.243C>G	NP_001355072.1:p.Leu81=
NM_001368144.2:c.243C>G	NP_001355073.1:p.Leu81=