Canonical Allele Identifier: CA229237
Gene: AGTR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 11718
ClinVar RCV Id: RCV000088653 RCV003914827
dbSNP Id: rs35474657
ExAC: X:115304504 G / A
gnomAD v2: X-115304504-G-A
gnomAD v3: X-116173251-G-A
gnomAD v4: X-116173251-G-A
MyVariant Identifiers: chrX:g.115304504G>A (hg19) chrX:g.116173251G>A (hg38)
PubMed: PMID:12089445 PMID:23871722
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.116173251G>A , CM000685.2:g.116173251G>A GRCh38
NC_000023.10:g.115304504G>A , CM000685.1:g.115304504G>A GRCh37
NC_000023.9:g.115218532G>A NCBI36
NG_016326.1:g.7547G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371906.5:c.971G>A MANE Select ENSP00000360973.4:p.Arg324Gln
ENST00000680409.1:n.1439G>A
ENST00000681852.1:c.971G>A ENSP00000505750.1:p.Arg324Gln
ENST00000371906.4:c.971G>A ENSP00000360973.4:p.Arg324Gln
NM_000686.4:c.971G>A NP_000677.2:p.Arg324Gln
XM_011537533.1:c.971G>A XP_011535835.1:p.Arg324Gln
NM_000686.5:c.971G>A MANE Select NP_000677.2:p.Arg324Gln
NM_001385624.1:c.971G>A NP_001372553.1:p.Arg324Gln
Search 100 bp 5'
Search 100 bp 3'