Canonical Allele Identifier: CA363511394

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 800598
• ClinVar RCV Id: RCV000984576
• dbSNP Id: rs1451687726
• gnomAD v2: 6-32008527-A-G
• gnomAD v3: 6-32040750-A-G
• gnomAD v4: 6-32040750-A-G
• MyVariant Identifiers: chr6:g.32008527A>G (hg19) ; chr6:g.32040750A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040750A>G , CM000668.2:g.32040750A>G	GRCh38
NC_000006.11:g.32008527A>G , CM000668.1:g.32008527A>G	GRCh37
NC_000006.10:g.32116506A>G	NCBI36
NG_007941.2:g.7443A>G
NG_008337.2:g.73625T>C
NG_007941.3:g.7446A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1201A>G MANE Select	ENSP00000496625.1:p.Arg401Gly
ENST00000418967.6:c.1201A>G	ENSP00000408860.2:p.Arg401Gly
ENST00000435122.3:c.1111A>G	ENSP00000415043.2:p.Arg371Gly
ENST00000479074.5:n.1342A>G
ENST00000479730.5:n.1317A>G
ENST00000483041.5:n.1370A>G
ENST00000486063.5:n.1180A>G
NM_000500.7:c.1201A>G	NP_000491.4:p.Arg401Gly
NM_001128590.3:c.1111A>G	NP_001122062.3:p.Arg371Gly
XM_011514314.1:c.796A>G	XP_011512616.1:p.Arg266Gly
NM_000500.9:c.1201A>G MANE Select	NP_000491.4:p.Arg401Gly
NM_001368143.1:c.796A>G	NP_001355072.1:p.Arg266Gly
NM_001368144.1:c.796A>G	NP_001355073.1:p.Arg266Gly
NM_001128590.4:c.1111A>G	NP_001122062.3:p.Arg371Gly
NM_001368143.2:c.796A>G	NP_001355072.1:p.Arg266Gly
NM_001368144.2:c.796A>G	NP_001355073.1:p.Arg266Gly