Canonical Allele Identifier: CA363510515

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 988370
• ClinVar RCV Id: RCV001269684
• dbSNP Id: rs7755898
• MyVariant Identifiers: chr6:g.32008198C>G (hg19) ; chr6:g.32040421C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040421C>G , CM000668.2:g.32040421C>G	GRCh38
NC_000006.11:g.32008198C>G , CM000668.1:g.32008198C>G	GRCh37
NC_000006.10:g.32116177C>G	NCBI36
NG_007941.2:g.7114C>G
NG_008337.2:g.73954G>C
NG_007941.3:g.7117C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.955C>G MANE Select	ENSP00000496625.1:p.Gln319Glu
ENST00000418967.6:c.955C>G	ENSP00000408860.2:p.Gln319Glu
ENST00000435122.3:c.865C>G	ENSP00000415043.2:p.Gln289Glu
ENST00000479074.5:n.1013C>G
ENST00000479730.5:n.1071C>G
ENST00000483041.5:n.1124C>G
ENST00000486063.5:n.934C>G
NM_000500.7:c.955C>G	NP_000491.4:p.Gln319Glu
NM_001128590.3:c.865C>G	NP_001122062.3:p.Gln289Glu
XM_011514314.1:c.550C>G	XP_011512616.1:p.Gln184Glu
NM_000500.9:c.955C>G MANE Select	NP_000491.4:p.Gln319Glu
NM_001368143.1:c.550C>G	NP_001355072.1:p.Gln184Glu
NM_001368144.1:c.550C>G	NP_001355073.1:p.Gln184Glu
NM_001128590.4:c.865C>G	NP_001122062.3:p.Gln289Glu
NM_001368143.2:c.550C>G	NP_001355072.1:p.Gln184Glu
NM_001368144.2:c.550C>G	NP_001355073.1:p.Gln184Glu