Canonical Allele Identifier: CA9080742
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs1410120844
ExAC: 19:3595822 C / T
gnomAD v2: 19-3595822-C-T
gnomAD v4: 19-3595824-C-T
MyVariant Identifiers: chr19:g.3595822C>T (hg19) chr19:g.3595822_3595845delinsTAGGTGGCCACGCGCAAGTAGATG (hg19) chr19:g.3595824C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595824C>T , CM000681.2:g.3595824C>T GRCh38
NC_000019.9:g.3595822C>T , CM000681.1:g.3595822C>T GRCh37
NC_000019.8:g.3546822C>T NCBI36
NG_013363.1:g.16010G>A , LRG_578:g.16010G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.896G>A MANE Select ENSP00000364336.4:p.Trp299Ter
ENST00000375190.8:c.896G>A ENSP00000364336.3:p.Trp299Ter
ENST00000411851.3:c.896G>A ENSP00000393333.2:p.Trp299Ter
ENST00000589966.1:c.507G>A ENSP00000468145.1:p.Leu169=
NM_001060.5:c.896G>A , LRG_578t1:c.896G>A NP_001051.1:p.Trp299Ter
NM_201636.2:c.896G>A NP_963998.2:p.Trp299Ter
XM_011528214.1:c.896G>A XP_011526516.1:p.Trp299Ter
XM_011528214.2:c.896G>A XP_011526516.1:p.Trp299Ter
NM_001060.6:c.896G>A MANE Select NP_001051.1:p.Trp299Ter
NM_201636.3:c.896G>A NP_963998.2:p.Trp299Ter
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