Canonical Allele Identifier: CA363503858

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007375C>T (hg19) ; chr6:g.32039598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039598C>T , CM000668.2:g.32039598C>T	GRCh38
NC_000006.11:g.32007375C>T , CM000668.1:g.32007375C>T	GRCh37
NC_000006.10:g.32115354C>T	NCBI36
NG_007941.2:g.6291C>T
NG_008337.2:g.74777G>A
NG_007941.3:g.6294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.602C>T MANE Select	ENSP00000496625.1:p.Thr201Ile
ENST00000418967.6:c.602C>T	ENSP00000408860.2:p.Thr201Ile
ENST00000435122.3:c.512C>T	ENSP00000415043.2:p.Thr171Ile
ENST00000462278.1:n.190C>T
ENST00000464325.5:n.523C>T
ENST00000466779.5:c.*294C>T	ENSP00000417321.1:n.*294C>T
ENST00000466879.5:n.653C>T
ENST00000469053.5:c.*294C>T	ENSP00000418104.1:n.*294C>T
ENST00000471671.4:c.563C>T	ENSP00000418561.1:p.Thr188Ile
ENST00000479074.5:n.660C>T
ENST00000479730.5:n.718C>T
ENST00000483041.5:n.771C>T
ENST00000486063.5:n.782C>T
NM_000500.7:c.602C>T	NP_000491.4:p.Thr201Ile
NM_001128590.3:c.512C>T	NP_001122062.3:p.Thr171Ile
XM_011514314.1:c.197C>T	XP_011512616.1:p.Thr66Ile
NM_000500.9:c.602C>T MANE Select	NP_000491.4:p.Thr201Ile
NM_001368143.1:c.197C>T	NP_001355072.1:p.Thr66Ile
NM_001368144.1:c.197C>T	NP_001355073.1:p.Thr66Ile
NM_001128590.4:c.512C>T	NP_001122062.3:p.Thr171Ile
NM_001368143.2:c.197C>T	NP_001355072.1:p.Thr66Ile
NM_001368144.2:c.197C>T	NP_001355073.1:p.Thr66Ile