Canonical Allele Identifier: CA363503249

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1191076481
• gnomAD v2: 6-32007230-T-C
• gnomAD v4: 6-32039453-T-C
• MyVariant Identifiers: chr6:g.32007230T>C (hg19) ; chr6:g.32039453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039453T>C , CM000668.2:g.32039453T>C	GRCh38
NC_000006.11:g.32007230T>C , CM000668.1:g.32007230T>C	GRCh37
NC_000006.10:g.32115209T>C	NCBI36
NG_007941.2:g.6146T>C
NG_008337.2:g.74922A>G
NG_007941.3:g.6149T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.545T>C MANE Select	ENSP00000496625.1:p.Ile182Thr
ENST00000418967.6:c.545T>C	ENSP00000408860.2:p.Ile182Thr
ENST00000435122.3:c.455T>C	ENSP00000415043.2:p.Ile152Thr
ENST00000462278.1:n.133T>C
ENST00000464325.5:n.466T>C
ENST00000466779.5:c.*237T>C	ENSP00000417321.1:n.*237T>C
ENST00000466879.5:n.596T>C
ENST00000469053.5:c.*237T>C	ENSP00000418104.1:n.*237T>C
ENST00000471671.4:c.545T>C	ENSP00000418561.1:p.Ile182Thr
ENST00000479074.5:n.603T>C
ENST00000479730.5:n.700T>C
ENST00000483041.5:n.714T>C
ENST00000486063.5:n.725T>C
ENST00000488465.1:n.553T>C
NM_000500.7:c.545T>C	NP_000491.4:p.Ile182Thr
NM_001128590.3:c.455T>C	NP_001122062.3:p.Ile152Thr
XM_011514314.1:c.140T>C	XP_011512616.1:p.Ile47Thr
NM_000500.9:c.545T>C MANE Select	NP_000491.4:p.Ile182Thr
NM_001368143.1:c.140T>C	NP_001355072.1:p.Ile47Thr
NM_001368144.1:c.140T>C	NP_001355073.1:p.Ile47Thr
NM_001128590.4:c.455T>C	NP_001122062.3:p.Ile152Thr
NM_001368143.2:c.140T>C	NP_001355072.1:p.Ile47Thr
NM_001368144.2:c.140T>C	NP_001355073.1:p.Ile47Thr