Canonical Allele Identifier: CA9080774
Gene: TBXA2R HGNC NCBI

Linked Data

ClinVar Variation Id: 263268
dbSNP Id: rs1131882
gnomAD v2: 19-3595923-G-A
gnomAD v3: 19-3595925-G-A
gnomAD v4: 19-3595925-G-A

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=