Canonical Allele Identifier: CA304367748
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs985547760
gnomAD v2: 19-3595358-C-T
gnomAD v3: 19-3595360-C-T
gnomAD v4: 19-3595360-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595360C>T , CM000681.2:g.3595360C>T GRCh38
NC_000019.9:g.3595358C>T , CM000681.1:g.3595358C>T GRCh37
NC_000019.8:g.3546358C>T NCBI36
NG_013363.1:g.16474G>A , LRG_578:g.16474G>A
NG_031943.1:g.14790C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.*328G>A MANE Select ENSP00000364336.4:n.*328G>A
ENST00000375190.8:c.*328G>A ENSP00000364336.3:n.*328G>A
ENST00000411851.3:c.984-284G>A ENSP00000393333.2:n.984-284G>A
ENST00000589966.1:c.*191G>A ENSP00000468145.1:n.*191G>A
NM_001060.5:c.*328G>A , LRG_578t1:c.*328G>A NP_001051.1:n.*328G>A
NM_201636.2:c.984-284G>A NP_963998.2:n.984-284G>A
NM_001060.6:c.*328G>A MANE Select NP_001051.1:n.*328G>A
NM_201636.3:c.984-284G>A NP_963998.2:n.984-284G>A