Canonical Allele Identifier: CA566693915

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1370040681
• gnomAD v2: 6-32007499-G-A
• gnomAD v4: 6-32039722-G-A
• MyVariant Identifiers: chr6:g.32007499G>A (hg19) ; chr6:g.32039722G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039722G>A , CM000668.2:g.32039722G>A	GRCh38
NC_000006.11:g.32007499G>A , CM000668.1:g.32007499G>A	GRCh37
NC_000006.10:g.32115478G>A	NCBI36
NG_007941.2:g.6415G>A
NG_008337.2:g.74653C>T
NG_007941.3:g.6418G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.652-27G>A MANE Select	ENSP00000496625.1:n.652-27G>A
ENST00000418967.6:c.652-27G>A	ENSP00000408860.2:n.652-27G>A
ENST00000435122.3:c.562-27G>A	ENSP00000415043.2:n.562-27G>A
ENST00000462278.1:n.314G>A
ENST00000464325.5:n.573-27G>A
ENST00000466779.5:c.*344-27G>A	ENSP00000417321.1:n.*344-27G>A
ENST00000466879.5:n.703-27G>A
ENST00000479074.5:n.710-27G>A
ENST00000479730.5:n.768-27G>A
ENST00000483041.5:n.821-27G>A
ENST00000486063.5:n.832-27G>A
NM_000500.7:c.652-27G>A	NP_000491.4:n.652-27G>A
NM_001128590.3:c.562-27G>A	NP_001122062.3:n.562-27G>A
XM_011514314.1:c.247-27G>A	XP_011512616.1:n.247-27G>A
NM_000500.9:c.652-27G>A MANE Select	NP_000491.4:n.652-27G>A
NM_001368143.1:c.247-27G>A	NP_001355072.1:n.247-27G>A
NM_001368144.1:c.247-27G>A	NP_001355073.1:n.247-27G>A
NM_001128590.4:c.562-27G>A	NP_001122062.3:n.562-27G>A
NM_001368143.2:c.247-27G>A	NP_001355072.1:n.247-27G>A
NM_001368144.2:c.247-27G>A	NP_001355073.1:n.247-27G>A