Canonical Allele Identifier: CA10497260

Gene: AGTR2

Linked Data

• ClinVar Variation Id: 2690866
• ClinVar RCV Id: RCV003489544
• dbSNP Id: rs387906503
• ExAC: X:115303927 A / AT
• gnomAD v2: X-115303927-A-AT
• gnomAD v3: X-116172674-A-AT
• gnomAD v4: X-116172674-A-AT
• COSMIC: COSM1161801 ; COSM4615171
• MyVariant Identifiers: chrX:g.115303928_115303929insT (hg19) ; chrX:g.115303927_115303928insT (hg19) ; chrX:g.116172675_116172676insT (hg38) ; chrX:g.116172674_116172675insT (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371906.5:c.402dup MANE Select	ENSP00000360973.4:p.Ile135TyrfsTer7
ENST00000680409.1:n.870dup
ENST00000681852.1:c.402dup	ENSP00000505750.1:p.Ile135TyrfsTer7
ENST00000371906.4:c.402dup	ENSP00000360973.4:p.Ile135TyrfsTer7
NM_000686.4:c.402dup	NP_000677.2:p.Ile135TyrfsTer7
XM_011537533.1:c.402dup	XP_011535835.1:p.Ile135TyrfsTer7
NM_000686.5:c.402dup MANE Select	NP_000677.2:p.Ile135TyrfsTer7
NM_001385624.1:c.402dup	NP_001372553.1:p.Ile135TyrfsTer7