Canonical Allele Identifier: CA9080774
Gene: TBXA2R HGNC NCBI
COSMIC:
COSM1129895 (not active)
MyVariant.info:
GRCh38 chr19:g.3595925G>A
GRCh37 chr19:g.3595923G>A
gnomAD v2:
19:3595923 G / A
gnomAD v3:
19:3595925 G / A
gnomAD v4:
chr19-3595925-G-A
Joint Max Group AF 0.61648533 (EAS)
Genomes Max Group AF 0.58939781 (EAS)
Exomes Max Group AF 0.61815304 (EAS)
ClinVar RCV:
RCV000243158
RCV001683147
ClinVar Variation:
263268
dbSNP:
1131882
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595925G>A , CM000681.2:g.3595925G>A GRCh38
NC_000019.9:g.3595923G>A , CM000681.1:g.3595923G>A GRCh37
NC_000019.8:g.3546923G>A NCBI36
NG_013363.1:g.15909C>T , LRG_578:g.15909C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.795C>T MANE Select ENSP00000364336.4:p.Ile265=
ENST00000375190.8:c.795C>T ENSP00000364336.3:p.Ile265=
ENST00000411851.3:c.795C>T ENSP00000393333.2:p.Ile265=
ENST00000589966.1:c.406C>T ENSP00000468145.1:p.Arg136Cys
NM_001060.5:c.795C>T , LRG_578t1:c.795C>T NP_001051.1:p.Ile265=
NM_201636.2:c.795C>T NP_963998.2:p.Ile265=
XM_011528214.1:c.795C>T XP_011526516.1:p.Ile265=
XM_011528214.2:c.795C>T XP_011526516.1:p.Ile265=
NM_001060.6:c.795C>T MANE Select NP_001051.1:p.Ile265=
NM_201636.3:c.795C>T NP_963998.2:p.Ile265=
Search 100 bp 5'
Search 100 bp 3'