Canonical Allele Identifier: CA363503068

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007207T>G (hg19) ; chr6:g.32039430T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039430T>G , CM000668.2:g.32039430T>G	GRCh38
NC_000006.11:g.32007207T>G , CM000668.1:g.32007207T>G	GRCh37
NC_000006.10:g.32115186T>G	NCBI36
NG_007941.2:g.6123T>G
NG_008337.2:g.74945A>C
NG_007941.3:g.6126T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.522T>G MANE Select	ENSP00000496625.1:p.Cys174Trp
ENST00000418967.6:c.522T>G	ENSP00000408860.2:p.Cys174Trp
ENST00000435122.3:c.432T>G	ENSP00000415043.2:p.Cys144Trp
ENST00000462278.1:n.110T>G
ENST00000464325.5:n.443T>G
ENST00000466779.5:c.*214T>G	ENSP00000417321.1:n.*214T>G
ENST00000466879.5:n.573T>G
ENST00000469053.5:c.*214T>G	ENSP00000418104.1:n.*214T>G
ENST00000471671.4:c.522T>G	ENSP00000418561.1:p.Cys174Trp
ENST00000478281.5:c.555T>G	ENSP00000419572.1:p.Cys185Trp
ENST00000479074.5:n.580T>G
ENST00000479730.5:n.677T>G
ENST00000483041.5:n.691T>G
ENST00000486063.5:n.702T>G
ENST00000488465.1:n.530T>G
NM_000500.7:c.522T>G	NP_000491.4:p.Cys174Trp
NM_001128590.3:c.432T>G	NP_001122062.3:p.Cys144Trp
XM_011514314.1:c.117T>G	XP_011512616.1:p.Cys39Trp
NM_000500.9:c.522T>G MANE Select	NP_000491.4:p.Cys174Trp
NM_001368143.1:c.117T>G	NP_001355072.1:p.Cys39Trp
NM_001368144.1:c.117T>G	NP_001355073.1:p.Cys39Trp
NM_001128590.4:c.432T>G	NP_001122062.3:p.Cys144Trp
NM_001368143.2:c.117T>G	NP_001355072.1:p.Cys39Trp
NM_001368144.2:c.117T>G	NP_001355073.1:p.Cys39Trp