Canonical Allele Identifier: CA414339428

Gene: AGTR2

Linked Data

• dbSNP Id: rs2147302474
• gnomAD v3: X-116173204-C-A
• gnomAD v4: X-116173204-C-A
• MyVariant Identifiers: chrX:g.115304457C>A (hg19) ; chrX:g.116173204C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.116173204C>A , CM000685.2:g.116173204C>A	GRCh38
NC_000023.10:g.115304457C>A , CM000685.1:g.115304457C>A	GRCh37
NC_000023.9:g.115218485C>A	NCBI36
NG_016326.1:g.7500C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371906.5:c.924C>A MANE Select	ENSP00000360973.4:p.Phe308Leu
ENST00000680409.1:n.1392C>A
ENST00000681852.1:c.924C>A	ENSP00000505750.1:p.Phe308Leu
ENST00000371906.4:c.924C>A	ENSP00000360973.4:p.Phe308Leu
NM_000686.4:c.924C>A	NP_000677.2:p.Phe308Leu
XM_011537533.1:c.924C>A	XP_011535835.1:p.Phe308Leu
NM_000686.5:c.924C>A MANE Select	NP_000677.2:p.Phe308Leu
NM_001385624.1:c.924C>A	NP_001372553.1:p.Phe308Leu