Canonical Allele Identifier: CA341181

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 12152
• ClinVar RCV Id: RCV000012937 ; RCV000711368
• dbSNP Id: rs7769409
• gnomAD v2: 6-32008312-C-T
• gnomAD v3: 6-32040535-C-T
• gnomAD v4: 6-32040535-C-T
• MyVariant Identifiers: chr6:g.32008312C>T (hg19) ; chr6:g.32040535C>T (hg38)
• PubMed: PMID:1496017 ; PMID:2303461 ; PMID:9215318 ; PMID:10496074 ; PMID:20301350 ; PMID:21134444 ; PMID:23359698 ; PMID:24077358

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040535C>T , CM000668.2:g.32040535C>T	GRCh38
NC_000006.11:g.32008312C>T , CM000668.1:g.32008312C>T	GRCh37
NC_000006.10:g.32116291C>T	NCBI36
NG_007941.2:g.7228C>T
NG_008337.2:g.73840G>A
NG_007941.3:g.7231C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1069C>T MANE Select	ENSP00000496625.1:p.Arg357Trp
ENST00000418967.6:c.1069C>T	ENSP00000408860.2:p.Arg357Trp
ENST00000435122.3:c.979C>T	ENSP00000415043.2:p.Arg327Trp
ENST00000479074.5:n.1127C>T
ENST00000479730.5:n.1185C>T
ENST00000483041.5:n.1238C>T
ENST00000486063.5:n.1048C>T
NM_000500.7:c.1069C>T	NP_000491.4:p.Arg357Trp
NM_001128590.3:c.979C>T	NP_001122062.3:p.Arg327Trp
XM_011514314.1:c.664C>T	XP_011512616.1:p.Arg222Trp
NM_000500.9:c.1069C>T MANE Select	NP_000491.4:p.Arg357Trp
NM_001368143.1:c.664C>T	NP_001355072.1:p.Arg222Trp
NM_001368144.1:c.664C>T	NP_001355073.1:p.Arg222Trp
NM_001128590.4:c.979C>T	NP_001122062.3:p.Arg327Trp
NM_001368143.2:c.664C>T	NP_001355072.1:p.Arg222Trp
NM_001368144.2:c.664C>T	NP_001355073.1:p.Arg222Trp