Canonical Allele Identifier: CA229236

Gene: AGTR2

Linked Data

• ClinVar Variation Id: 11717
• ClinVar RCV Id: RCV000088652 ; RCV000378040 ; RCV003964797
• dbSNP Id: rs387906503
• ExAC: X:115303927 AT / A
• gnomAD v2: X-115303927-AT-A
• gnomAD v3: X-116172674-AT-A
• gnomAD v4: X-116172674-AT-A
• COSMIC: COSM1465082
• MyVariant Identifiers: chrX:g.115303935del (hg19) ; chrX:g.115303928del (hg19) ; chrX:g.116172682del (hg38) ; chrX:g.116172675del (hg38)
• PubMed: PMID:12089445 ; PMID:16283672 ; PMID:23871722 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.116172682del , CM000685.2:g.116172682del	GRCh38
NC_000023.10:g.115303935del , CM000685.1:g.115303935del	GRCh37
NC_000023.9:g.115217963del	NCBI36
NG_016326.1:g.6978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371906.5:c.402del MANE Select	ENSP00000360973.4:p.Phe134LeufsTer5
ENST00000680409.1:n.870del
ENST00000681852.1:c.402del	ENSP00000505750.1:p.Phe134LeufsTer5
ENST00000371906.4:c.402del	ENSP00000360973.4:p.Phe134LeufsTer5
NM_000686.4:c.402del	NP_000677.2:p.Phe134LeufsTer5
XM_011537533.1:c.402del	XP_011535835.1:p.Phe134LeufsTer5
NM_000686.5:c.402del MANE Select	NP_000677.2:p.Phe134LeufsTer5
NM_001385624.1:c.402del	NP_001372553.1:p.Phe134LeufsTer5