Canonical Allele Identifier: CA449818729

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 988276
• ClinVar RCV Id: RCV001269517
• dbSNP Id: rs1776217797
• gnomAD v4: 6-32040418-C-T
• MyVariant Identifiers: chr6:g.32008195C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040418C>T , CM000668.2:g.32040418C>T	GRCh38
NC_000006.11:g.32008195C>T , CM000668.1:g.32008195C>T	GRCh37
NC_000006.10:g.32116174C>T	NCBI36
NG_007941.2:g.7111C>T
NG_008337.2:g.73957G>A
NG_007941.3:g.7114C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.952C>T MANE Select	ENSP00000496625.1:p.Leu318=
ENST00000418967.6:c.952C>T	ENSP00000408860.2:p.Leu318=
ENST00000435122.3:c.862C>T	ENSP00000415043.2:p.Leu288=
ENST00000479074.5:n.1010C>T
ENST00000479730.5:n.1068C>T
ENST00000483041.5:n.1121C>T
ENST00000486063.5:n.931C>T
NM_000500.7:c.952C>T	NP_000491.4:p.Leu318=
NM_001128590.3:c.862C>T	NP_001122062.3:p.Leu288=
XM_011514314.1:c.547C>T	XP_011512616.1:p.Leu183=
NM_000500.9:c.952C>T MANE Select	NP_000491.4:p.Leu318=
NM_001368143.1:c.547C>T	NP_001355072.1:p.Leu183=
NM_001368144.1:c.547C>T	NP_001355073.1:p.Leu183=
NM_001128590.4:c.862C>T	NP_001122062.3:p.Leu288=
NM_001368143.2:c.547C>T	NP_001355072.1:p.Leu183=
NM_001368144.2:c.547C>T	NP_001355073.1:p.Leu183=