Canonical Allele Identifier: CA136894602

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1054419082
• gnomAD v2: 6-32007730-G-A
• gnomAD v3: 6-32039953-G-A
• gnomAD v4: 6-32039953-G-A
• MyVariant Identifiers: chr6:g.32007730G>A (hg19) ; chr6:g.32039953G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039953G>A , CM000668.2:g.32039953G>A	GRCh38
NC_000006.11:g.32007730G>A , CM000668.1:g.32007730G>A	GRCh37
NC_000006.10:g.32115709G>A	NCBI36
NG_007941.2:g.6646G>A
NG_008337.2:g.74422C>T
NG_007941.3:g.6649G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.739-52G>A MANE Select	ENSP00000496625.1:n.739-52G>A
ENST00000418967.6:c.739-52G>A	ENSP00000408860.2:n.739-52G>A
ENST00000435122.3:c.649-52G>A	ENSP00000415043.2:n.649-52G>A
ENST00000462278.1:n.545G>A
ENST00000479074.5:n.797-52G>A
ENST00000479730.5:n.855-52G>A
ENST00000483041.5:n.908-52G>A
ENST00000486063.5:n.918+118G>A
NM_000500.7:c.739-52G>A	NP_000491.4:n.739-52G>A
NM_001128590.3:c.649-52G>A	NP_001122062.3:n.649-52G>A
XM_011514314.1:c.334-52G>A	XP_011512616.1:n.334-52G>A
NM_000500.9:c.739-52G>A MANE Select	NP_000491.4:n.739-52G>A
NM_001368143.1:c.334-52G>A	NP_001355072.1:n.334-52G>A
NM_001368144.1:c.334-52G>A	NP_001355073.1:n.334-52G>A
NM_001128590.4:c.649-52G>A	NP_001122062.3:n.649-52G>A
NM_001368143.2:c.334-52G>A	NP_001355072.1:n.334-52G>A
NM_001368144.2:c.334-52G>A	NP_001355073.1:n.334-52G>A