Canonical Allele Identifier: CA304367767
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs1002471039
gnomAD v3: 19-3595419-C-T
gnomAD v4: 19-3595419-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595419C>T , CM000681.2:g.3595419C>T GRCh38
NC_000019.9:g.3595417C>T , CM000681.1:g.3595417C>T GRCh37
NC_000019.8:g.3546417C>T NCBI36
NG_013363.1:g.16415G>A , LRG_578:g.16415G>A
NG_031943.1:g.14849C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.*269G>A MANE Select ENSP00000364336.4:n.*269G>A
ENST00000375190.8:c.*269G>A ENSP00000364336.3:n.*269G>A
ENST00000411851.3:c.983+318G>A ENSP00000393333.2:n.983+318G>A
ENST00000589966.1:c.*132G>A ENSP00000468145.1:n.*132G>A
NM_001060.5:c.*269G>A , LRG_578t1:c.*269G>A NP_001051.1:n.*269G>A
NM_201636.2:c.983+318G>A NP_963998.2:n.983+318G>A
NM_001060.6:c.*269G>A MANE Select NP_001051.1:n.*269G>A
NM_201636.3:c.983+318G>A NP_963998.2:n.983+318G>A