Canonical Allele Identifier: CA631504290
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs1168526014
gnomAD v2: 19-3595537-G-A
gnomAD v4: 19-3595539-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595539G>A , CM000681.2:g.3595539G>A GRCh38
NC_000019.9:g.3595537G>A , CM000681.1:g.3595537G>A GRCh37
NC_000019.8:g.3546537G>A NCBI36
NG_013363.1:g.16295C>T , LRG_578:g.16295C>T
NG_031943.1:g.14969G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.*149C>T MANE Select ENSP00000364336.4:n.*149C>T
ENST00000375190.8:c.*149C>T ENSP00000364336.3:n.*149C>T
ENST00000411851.3:c.983+198C>T ENSP00000393333.2:n.983+198C>T
ENST00000589966.1:c.*12C>T ENSP00000468145.1:n.*12C>T
NM_001060.5:c.*149C>T , LRG_578t1:c.*149C>T NP_001051.1:n.*149C>T
NM_201636.2:c.983+198C>T NP_963998.2:n.983+198C>T
NM_001060.6:c.*149C>T MANE Select NP_001051.1:n.*149C>T
NM_201636.3:c.983+198C>T NP_963998.2:n.983+198C>T