Canonical Allele Identifier: CA566693908

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1192294541
• gnomAD v2: 6-32007473-G-A
• gnomAD v3: 6-32039696-G-A
• gnomAD v4: 6-32039696-G-A
• MyVariant Identifiers: chr6:g.32007473G>A (hg19) ; chr6:g.32039696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039696G>A , CM000668.2:g.32039696G>A	GRCh38
NC_000006.11:g.32007473G>A , CM000668.1:g.32007473G>A	GRCh37
NC_000006.10:g.32115452G>A	NCBI36
NG_007941.2:g.6389G>A
NG_008337.2:g.74679C>T
NG_007941.3:g.6392G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.651+49G>A MANE Select	ENSP00000496625.1:n.651+49G>A
ENST00000418967.6:c.651+49G>A	ENSP00000408860.2:n.651+49G>A
ENST00000435122.3:c.561+49G>A	ENSP00000415043.2:n.561+49G>A
ENST00000462278.1:n.288G>A
ENST00000464325.5:n.572+49G>A
ENST00000466779.5:c.*343+49G>A	ENSP00000417321.1:n.*343+49G>A
ENST00000466879.5:n.702+49G>A
ENST00000479074.5:n.709+49G>A
ENST00000479730.5:n.767+49G>A
ENST00000483041.5:n.820+49G>A
ENST00000486063.5:n.831+49G>A
NM_000500.7:c.651+49G>A	NP_000491.4:n.651+49G>A
NM_001128590.3:c.561+49G>A	NP_001122062.3:n.561+49G>A
XM_011514314.1:c.246+49G>A	XP_011512616.1:n.246+49G>A
NM_000500.9:c.651+49G>A MANE Select	NP_000491.4:n.651+49G>A
NM_001368143.1:c.246+49G>A	NP_001355072.1:n.246+49G>A
NM_001368144.1:c.246+49G>A	NP_001355073.1:n.246+49G>A
NM_001128590.4:c.561+49G>A	NP_001122062.3:n.561+49G>A
NM_001368143.2:c.246+49G>A	NP_001355072.1:n.246+49G>A
NM_001368144.2:c.246+49G>A	NP_001355073.1:n.246+49G>A