Canonical Allele Identifier: CA358446

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 242688
• ClinVar RCV Id: RCV001269964 ; RCV002250603 ; RCV002298552
• dbSNP Id: rs6476
• ExAC: 6:32007593 T / A
• gnomAD v2: 6-32007593-T-A
• gnomAD v3: 6-32039816-T-A
• gnomAD v4: 6-32039816-T-A
• MyVariant Identifiers: chr6:g.32007593T>A (hg19) ; chr6:g.32039816T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039816T>A , CM000668.2:g.32039816T>A	GRCh38
NC_000006.11:g.32007593T>A , CM000668.1:g.32007593T>A	GRCh37
NC_000006.10:g.32115572T>A	NCBI36
NG_007941.2:g.6509T>A
NG_008337.2:g.74559A>T
NG_007941.3:g.6512T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.719T>A MANE Select	ENSP00000496625.1:p.Met240Lys
ENST00000418967.6:c.719T>A	ENSP00000408860.2:p.Met240Lys
ENST00000435122.3:c.629T>A	ENSP00000415043.2:p.Met210Lys
ENST00000462278.1:n.408T>A
ENST00000466779.5:c.*411T>A	ENSP00000417321.1:n.*411T>A
ENST00000466879.5:n.770T>A
ENST00000479074.5:n.777T>A
ENST00000479730.5:n.835T>A
ENST00000483041.5:n.888T>A
ENST00000486063.5:n.899T>A
NM_000500.7:c.719T>A	NP_000491.4:p.Met240Lys
NM_001128590.3:c.629T>A	NP_001122062.3:p.Met210Lys
XM_011514314.1:c.314T>A	XP_011512616.1:p.Met105Lys
NM_000500.9:c.719T>A MANE Select	NP_000491.4:p.Met240Lys
NM_001368143.1:c.314T>A	NP_001355072.1:p.Met105Lys
NM_001368144.1:c.314T>A	NP_001355073.1:p.Met105Lys
NM_001128590.4:c.629T>A	NP_001122062.3:p.Met210Lys
NM_001368143.2:c.314T>A	NP_001355072.1:p.Met105Lys
NM_001368144.2:c.314T>A	NP_001355073.1:p.Met105Lys