Canonical Allele Identifier: CA9080759
Gene: TBXA2R HGNC NCBI

Linked Data

ClinVar Variation Id: 2052264
ClinVar RCV Id: RCV002932604
dbSNP Id: rs201364793
ExAC: 19:3595870 G / T
gnomAD v2: 19-3595870-G-T
gnomAD v3: 19-3595872-G-T
gnomAD v4: 19-3595872-G-T
MyVariant Identifiers: chr19:g.3595870G>T (hg19) chr19:g.3595872G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595872G>T , CM000681.2:g.3595872G>T GRCh38
NC_000019.9:g.3595870G>T , CM000681.1:g.3595870G>T GRCh37
NC_000019.8:g.3546870G>T NCBI36
NG_013363.1:g.15962C>A , LRG_578:g.15962C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.848C>A MANE Select ENSP00000364336.4:p.Ser283Tyr
ENST00000375190.8:c.848C>A ENSP00000364336.3:p.Ser283Tyr
ENST00000411851.3:c.848C>A ENSP00000393333.2:p.Ser283Tyr
ENST00000589966.1:c.459C>A ENSP00000468145.1:p.Val153=
NM_001060.5:c.848C>A , LRG_578t1:c.848C>A NP_001051.1:p.Ser283Tyr
NM_201636.2:c.848C>A NP_963998.2:p.Ser283Tyr
XM_011528214.1:c.848C>A XP_011526516.1:p.Ser283Tyr
XM_011528214.2:c.848C>A XP_011526516.1:p.Ser283Tyr
NM_001060.6:c.848C>A MANE Select NP_001051.1:p.Ser283Tyr
NM_201636.3:c.848C>A NP_963998.2:p.Ser283Tyr
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