Canonical Allele Identifier: CA449818667

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007213C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039436C>A , CM000668.2:g.32039436C>A	GRCh38
NC_000006.11:g.32007213C>A , CM000668.1:g.32007213C>A	GRCh37
NC_000006.10:g.32115192C>A	NCBI36
NG_007941.2:g.6129C>A
NG_008337.2:g.74939G>T
NG_007941.3:g.6132C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.528C>A MANE Select	ENSP00000496625.1:p.Leu176=
ENST00000418967.6:c.528C>A	ENSP00000408860.2:p.Leu176=
ENST00000435122.3:c.438C>A	ENSP00000415043.2:p.Leu146=
ENST00000462278.1:n.116C>A
ENST00000464325.5:n.449C>A
ENST00000466779.5:c.*220C>A	ENSP00000417321.1:n.*220C>A
ENST00000466879.5:n.579C>A
ENST00000469053.5:c.*220C>A	ENSP00000418104.1:n.*220C>A
ENST00000471671.4:c.528C>A	ENSP00000418561.1:p.Leu176=
ENST00000479074.5:n.586C>A
ENST00000479730.5:n.683C>A
ENST00000483041.5:n.697C>A
ENST00000486063.5:n.708C>A
ENST00000488465.1:n.536C>A
NM_000500.7:c.528C>A	NP_000491.4:p.Leu176=
NM_001128590.3:c.438C>A	NP_001122062.3:p.Leu146=
XM_011514314.1:c.123C>A	XP_011512616.1:p.Leu41=
NM_000500.9:c.528C>A MANE Select	NP_000491.4:p.Leu176=
NM_001368143.1:c.123C>A	NP_001355072.1:p.Leu41=
NM_001368144.1:c.123C>A	NP_001355073.1:p.Leu41=
NM_001128590.4:c.438C>A	NP_001122062.3:p.Leu146=
NM_001368143.2:c.123C>A	NP_001355072.1:p.Leu41=
NM_001368144.2:c.123C>A	NP_001355073.1:p.Leu41=