Canonical Allele Identifier: CA9080753
Gene: TBXA2R HGNC NCBI

Linked Data

ClinVar Variation Id: 2981527
ClinVar RCV Id: RCV003835149
dbSNP Id: rs61731124
ExAC: 19:3595861 G / A
gnomAD v2: 19-3595861-G-A
gnomAD v3: 19-3595863-G-A
gnomAD v4: 19-3595863-G-A
MyVariant Identifiers: chr19:g.3595861G>A (hg19) chr19:g.3595863G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595863G>A , CM000681.2:g.3595863G>A GRCh38
NC_000019.9:g.3595861G>A , CM000681.1:g.3595861G>A GRCh37
NC_000019.8:g.3546861G>A NCBI36
NG_013363.1:g.15971C>T , LRG_578:g.15971C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.857C>T MANE Select ENSP00000364336.4:p.Thr286Met
ENST00000375190.8:c.857C>T ENSP00000364336.3:p.Thr286Met
ENST00000411851.3:c.857C>T ENSP00000393333.2:p.Thr286Met
ENST00000589966.1:c.468C>T ENSP00000468145.1:p.His156=
NM_001060.5:c.857C>T , LRG_578t1:c.857C>T NP_001051.1:p.Thr286Met
NM_201636.2:c.857C>T NP_963998.2:p.Thr286Met
XM_011528214.1:c.857C>T XP_011526516.1:p.Thr286Met
XM_011528214.2:c.857C>T XP_011526516.1:p.Thr286Met
NM_001060.6:c.857C>T MANE Select NP_001051.1:p.Thr286Met
NM_201636.3:c.857C>T NP_963998.2:p.Thr286Met
Search 100 bp 5'
Search 100 bp 3'