Canonical Allele Identifier: CA363504493

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 1345036
• ClinVar RCV Id: RCV002034881
• dbSNP Id: rs1397184823
• gnomAD v2: 6-32007525-G-A
• gnomAD v4: 6-32039748-G-A
• MyVariant Identifiers: chr6:g.32007525G>A (hg19) ; chr6:g.32039748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039748G>A , CM000668.2:g.32039748G>A	GRCh38
NC_000006.11:g.32007525G>A , CM000668.1:g.32007525G>A	GRCh37
NC_000006.10:g.32115504G>A	NCBI36
NG_007941.2:g.6441G>A
NG_008337.2:g.74627C>T
NG_007941.3:g.6444G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.652-1G>A MANE Select	ENSP00000496625.1:n.652-1G>A
ENST00000418967.6:c.652-1G>A	ENSP00000408860.2:n.652-1G>A
ENST00000435122.3:c.562-1G>A	ENSP00000415043.2:n.562-1G>A
ENST00000462278.1:n.340G>A
ENST00000464325.5:n.573-1G>A
ENST00000466779.5:c.*344-1G>A	ENSP00000417321.1:n.*344-1G>A
ENST00000466879.5:n.703-1G>A
ENST00000479074.5:n.710-1G>A
ENST00000479730.5:n.768-1G>A
ENST00000483041.5:n.821-1G>A
ENST00000486063.5:n.832-1G>A
NM_000500.7:c.652-1G>A	NP_000491.4:n.652-1G>A
NM_001128590.3:c.562-1G>A	NP_001122062.3:n.562-1G>A
XM_011514314.1:c.247-1G>A	XP_011512616.1:n.247-1G>A
NM_000500.9:c.652-1G>A MANE Select	NP_000491.4:n.652-1G>A
NM_001368143.1:c.247-1G>A	NP_001355072.1:n.247-1G>A
NM_001368144.1:c.247-1G>A	NP_001355073.1:n.247-1G>A
NM_001128590.4:c.562-1G>A	NP_001122062.3:n.562-1G>A
NM_001368143.2:c.247-1G>A	NP_001355072.1:n.247-1G>A
NM_001368144.2:c.247-1G>A	NP_001355073.1:n.247-1G>A