Canonical Allele Identifier: CA9080683
Gene: TBXA2R HGNC NCBI

Linked Data

ClinVar Variation Id: 1297313
ClinVar RCV Id: RCV001725017
dbSNP Id: rs13306046
gnomAD v2: 19-3595522-G-A
gnomAD v3: 19-3595524-G-A
gnomAD v4: 19-3595524-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595524G>A , CM000681.2:g.3595524G>A GRCh38
NC_000019.9:g.3595522G>A , CM000681.1:g.3595522G>A GRCh37
NC_000019.8:g.3546522G>A NCBI36
NG_013363.1:g.16310C>T , LRG_578:g.16310C>T
NG_031943.1:g.14954G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375190.10:c.*164C>T MANE Select ENSP00000364336.4:n.*164C>T
ENST00000375190.8:c.*164C>T ENSP00000364336.3:n.*164C>T
ENST00000411851.3:c.983+213C>T ENSP00000393333.2:n.983+213C>T
ENST00000589966.1:c.*27C>T ENSP00000468145.1:n.*27C>T
NM_001060.5:c.*164C>T , LRG_578t1:c.*164C>T NP_001051.1:n.*164C>T
NM_201636.2:c.983+213C>T NP_963998.2:n.983+213C>T
NM_001060.6:c.*164C>T MANE Select NP_001051.1:n.*164C>T
NM_201636.3:c.983+213C>T NP_963998.2:n.983+213C>T