Canonical Allele Identifier: CA136894456

Gene: CYP21A2

Linked Data

• dbSNP Id: rs72552752
• MyVariant Identifiers: chr6:g.32007559C>T (hg19) ; chr6:g.32039782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039782C>T , CM000668.2:g.32039782C>T	GRCh38
NC_000006.11:g.32007559C>T , CM000668.1:g.32007559C>T	GRCh37
NC_000006.10:g.32115538C>T	NCBI36
NG_007941.2:g.6475C>T
NG_008337.2:g.74593G>A
NG_007941.3:g.6478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.685C>T MANE Select	ENSP00000496625.1:p.Gln229Ter
ENST00000418967.6:c.685C>T	ENSP00000408860.2:p.Gln229Ter
ENST00000435122.3:c.595C>T	ENSP00000415043.2:p.Gln199Ter
ENST00000462278.1:n.374C>T
ENST00000466779.5:c.*377C>T	ENSP00000417321.1:n.*377C>T
ENST00000466879.5:n.736C>T
ENST00000479074.5:n.743C>T
ENST00000479730.5:n.801C>T
ENST00000483041.5:n.854C>T
ENST00000486063.5:n.865C>T
NM_000500.7:c.685C>T	NP_000491.4:p.Gln229Ter
NM_001128590.3:c.595C>T	NP_001122062.3:p.Gln199Ter
XM_011514314.1:c.280C>T	XP_011512616.1:p.Gln94Ter
NM_000500.9:c.685C>T MANE Select	NP_000491.4:p.Gln229Ter
NM_001368143.1:c.280C>T	NP_001355072.1:p.Gln94Ter
NM_001368144.1:c.280C>T	NP_001355073.1:p.Gln94Ter
NM_001128590.4:c.595C>T	NP_001122062.3:p.Gln199Ter
NM_001368143.2:c.280C>T	NP_001355072.1:p.Gln94Ter
NM_001368144.2:c.280C>T	NP_001355073.1:p.Gln94Ter