Canonical Allele Identifier: CA566694924

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1252065292
• gnomAD v2: 6-32008029-A-G
• gnomAD v4: 6-32040252-A-G
• MyVariant Identifiers: chr6:g.32008029A>G (hg19) ; chr6:g.32040252A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040252A>G , CM000668.2:g.32040252A>G	GRCh38
NC_000006.11:g.32008029A>G , CM000668.1:g.32008029A>G	GRCh37
NC_000006.10:g.32116008A>G	NCBI36
NG_007941.2:g.6945A>G
NG_008337.2:g.74123T>C
NG_007941.3:g.6948A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.939+47A>G MANE Select	ENSP00000496625.1:n.939+47A>G
ENST00000418967.6:c.939+47A>G	ENSP00000408860.2:n.939+47A>G
ENST00000435122.3:c.849+47A>G	ENSP00000415043.2:n.849+47A>G
ENST00000479074.5:n.997+47A>G
ENST00000479730.5:n.1055+47A>G
ENST00000483041.5:n.1108+47A>G
ENST00000486063.5:n.919-154A>G
NM_000500.7:c.939+47A>G	NP_000491.4:n.939+47A>G
NM_001128590.3:c.849+47A>G	NP_001122062.3:n.849+47A>G
XM_011514314.1:c.534+47A>G	XP_011512616.1:n.534+47A>G
NM_000500.9:c.939+47A>G MANE Select	NP_000491.4:n.939+47A>G
NM_001368143.1:c.534+47A>G	NP_001355072.1:n.534+47A>G
NM_001368144.1:c.534+47A>G	NP_001355073.1:n.534+47A>G
NM_001128590.4:c.849+47A>G	NP_001122062.3:n.849+47A>G
NM_001368143.2:c.534+47A>G	NP_001355072.1:n.534+47A>G
NM_001368144.2:c.534+47A>G	NP_001355073.1:n.534+47A>G