Canonical Allele Identifier: CA121919

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 12151
• ClinVar RCV Id: RCV000012935 ; RCV000012936 ; RCV000012934 ; RCV000210728 ; RCV000711385 ; RCV001804725 ; RCV003407320
• dbSNP Id: rs6471
• ExAC: 6:32007887 G / T
• gnomAD v2: 6-32007887-G-T
• gnomAD v3: 6-32040110-G-T
• gnomAD v4: 6-32040110-G-T
• COSMIC: COSM1443458
• MyVariant Identifiers: chr6:g.32007887G>T (hg19) ; chr6:g.32040110G>T (hg38)
• PubMed: PMID:1496017 ; PMID:1644925 ; PMID:1864962 ; PMID:1985465 ; PMID:2249999 ; PMID:2788081 ; PMID:3260007 ; PMID:7635470 ; PMID:8081391 ; PMID:9521938 ; PMID:9661649 ; PMID:10857554 ; PMID:12930931 ; PMID:14513879 ; PMID:15964450 ; PMID:20301350 ; PMID:20661889 ; PMID:20926536 ; PMID:23359698 ; PMID:23359706 ; PMID:23692712 ; PMID:24778650 ; PMID:24904866 ; PMID:25041270

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040110G>T , CM000668.2:g.32040110G>T	GRCh38
NC_000006.11:g.32007887G>T , CM000668.1:g.32007887G>T	GRCh37
NC_000006.10:g.32115866G>T	NCBI36
NG_007941.2:g.6803G>T
NG_008337.2:g.74265C>A
NG_007941.3:g.6806G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.844G>T MANE Select	ENSP00000496625.1:p.Val282Leu
ENST00000418967.6:c.844G>T	ENSP00000408860.2:p.Val282Leu
ENST00000435122.3:c.754G>T	ENSP00000415043.2:p.Val252Leu
ENST00000479074.5:n.902G>T
ENST00000479730.5:n.960G>T
ENST00000483041.5:n.1013G>T
ENST00000486063.5:n.918+275G>T
NM_000500.7:c.844G>T	NP_000491.4:p.Val282Leu
NM_001128590.3:c.754G>T	NP_001122062.3:p.Val252Leu
XM_011514314.1:c.439G>T	XP_011512616.1:p.Val147Leu
NM_000500.9:c.844G>T MANE Select	NP_000491.4:p.Val282Leu
NM_001368143.1:c.439G>T	NP_001355072.1:p.Val147Leu
NM_001368144.1:c.439G>T	NP_001355073.1:p.Val147Leu
NM_001128590.4:c.754G>T	NP_001122062.3:p.Val252Leu
NM_001368143.2:c.439G>T	NP_001355072.1:p.Val147Leu
NM_001368144.2:c.439G>T	NP_001355073.1:p.Val147Leu