Canonical Allele Identifier: CA363502747

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007167T>A (hg19) ; chr6:g.32039390T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039390T>A , CM000668.2:g.32039390T>A	GRCh38
NC_000006.11:g.32007167T>A , CM000668.1:g.32007167T>A	GRCh37
NC_000006.10:g.32115146T>A	NCBI36
NG_007941.2:g.6083T>A
NG_008337.2:g.74985A>T
NG_007941.3:g.6086T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.482T>A MANE Select	ENSP00000496625.1:p.Ile161Asn
ENST00000418967.6:c.482T>A	ENSP00000408860.2:p.Ile161Asn
ENST00000435122.3:c.392T>A	ENSP00000415043.2:p.Ile131Asn
ENST00000462278.1:n.70T>A
ENST00000464325.5:n.403T>A
ENST00000466779.5:c.*174T>A	ENSP00000417321.1:n.*174T>A
ENST00000466879.5:n.533T>A
ENST00000469053.5:c.*174T>A	ENSP00000418104.1:n.*174T>A
ENST00000471671.4:c.482T>A	ENSP00000418561.1:p.Ile161Asn
ENST00000478281.5:c.515T>A	ENSP00000419572.1:p.Ile172Asn
ENST00000479074.5:n.540T>A
ENST00000479730.5:n.637T>A
ENST00000483041.5:n.651T>A
ENST00000486063.5:n.662T>A
ENST00000488465.1:n.490T>A
NM_000500.7:c.482T>A	NP_000491.4:p.Ile161Asn
NM_001128590.3:c.392T>A	NP_001122062.3:p.Ile131Asn
XM_011514314.1:c.77T>A	XP_011512616.1:p.Ile26Asn
NM_000500.9:c.482T>A MANE Select	NP_000491.4:p.Ile161Asn
NM_001368143.1:c.77T>A	NP_001355072.1:p.Ile26Asn
NM_001368144.1:c.77T>A	NP_001355073.1:p.Ile26Asn
NM_001128590.4:c.392T>A	NP_001122062.3:p.Ile131Asn
NM_001368143.2:c.77T>A	NP_001355072.1:p.Ile26Asn
NM_001368144.2:c.77T>A	NP_001355073.1:p.Ile26Asn