Canonical Allele Identifier: CA10497247
Gene: AGTR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2690864
ClinVar RCV Id: RCV003489542
dbSNP Id: rs782664096
ExAC: X:115303769 C / G
gnomAD v2: X-115303769-C-G
gnomAD v3: X-116172516-C-G
gnomAD v4: X-116172516-C-G
MyVariant Identifiers: chrX:g.115303769C>G (hg19) chrX:g.116172516C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.116172516C>G , CM000685.2:g.116172516C>G GRCh38
NC_000023.10:g.115303769C>G , CM000685.1:g.115303769C>G GRCh37
NC_000023.9:g.115217797C>G NCBI36
NG_016326.1:g.6812C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371906.5:c.236C>G MANE Select ENSP00000360973.4:p.Ser79Cys
ENST00000680409.1:n.704C>G
ENST00000681852.1:c.236C>G ENSP00000505750.1:p.Ser79Cys
ENST00000371906.4:c.236C>G ENSP00000360973.4:p.Ser79Cys
NM_000686.4:c.236C>G NP_000677.2:p.Ser79Cys
XM_011537533.1:c.236C>G XP_011535835.1:p.Ser79Cys
NM_000686.5:c.236C>G MANE Select NP_000677.2:p.Ser79Cys
NM_001385624.1:c.236C>G NP_001372553.1:p.Ser79Cys
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