Canonical Allele Identifier: CA3732476

Gene: CYP21A2

Linked Data

• dbSNP Id: rs767700251
• ExAC: 6:32007491 T / G
• gnomAD v2: 6-32007491-T-G
• MyVariant Identifiers: chr6:g.32007491T>G (hg19) ; chr6:g.32039714T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039714T>G , CM000668.2:g.32039714T>G	GRCh38
NC_000006.11:g.32007491T>G , CM000668.1:g.32007491T>G	GRCh37
NC_000006.10:g.32115470T>G	NCBI36
NG_007941.2:g.6407T>G
NG_008337.2:g.74661A>C
NG_007941.3:g.6410T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.652-35T>G MANE Select	ENSP00000496625.1:n.652-35T>G
ENST00000418967.6:c.652-35T>G	ENSP00000408860.2:n.652-35T>G
ENST00000435122.3:c.562-35T>G	ENSP00000415043.2:n.562-35T>G
ENST00000462278.1:n.306T>G
ENST00000464325.5:n.573-35T>G
ENST00000466779.5:c.*344-35T>G	ENSP00000417321.1:n.*344-35T>G
ENST00000466879.5:n.703-35T>G
ENST00000479074.5:n.710-35T>G
ENST00000479730.5:n.768-35T>G
ENST00000483041.5:n.821-35T>G
ENST00000486063.5:n.832-35T>G
NM_000500.7:c.652-35T>G	NP_000491.4:n.652-35T>G
NM_001128590.3:c.562-35T>G	NP_001122062.3:n.562-35T>G
XM_011514314.1:c.247-35T>G	XP_011512616.1:n.247-35T>G
NM_000500.9:c.652-35T>G MANE Select	NP_000491.4:n.652-35T>G
NM_001368143.1:c.247-35T>G	NP_001355072.1:n.247-35T>G
NM_001368144.1:c.247-35T>G	NP_001355073.1:n.247-35T>G
NM_001128590.4:c.562-35T>G	NP_001122062.3:n.562-35T>G
NM_001368143.2:c.247-35T>G	NP_001355072.1:n.247-35T>G
NM_001368144.2:c.247-35T>G	NP_001355073.1:n.247-35T>G