Canonical Allele Identifier: CA9080743

Gene: TBXA2R

Linked Data

• dbSNP Id: rs747118743
• ExAC: 19:3595822 CAGGTGGCCACGCGCAAGTAGATG / C
• gnomAD v2: 19-3595822-CAGGTGGCCACGCGCAAGTAGATG-C
• gnomAD v4: 19-3595824-CAGGTGGCCACGCGCAAGTAGATG-C
• MyVariant Identifiers: chr19:g.3595823_3595845del (hg19) ; chr19:g.3595825_3595847del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595827_3595849del , CM000681.2:g.3595827_3595849del	GRCh38
NC_000019.9:g.3595825_3595847del , CM000681.1:g.3595825_3595847del	GRCh37
NC_000019.8:g.3546825_3546847del	NCBI36
NG_013363.1:g.15987_16009del , LRG_578:g.15987_16009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.873_895del MANE Select	ENSP00000364336.4:p.Ile292GlufsTer?
ENST00000375190.8:c.873_895del	ENSP00000364336.3:p.Ile292GlufsTer?
ENST00000411851.3:c.873_895del	ENSP00000393333.2:p.Ile292GlufsTer?
ENST00000589966.1:c.484_506del	ENSP00000468145.1:p.His162GlyfsTer?
NM_001060.5:c.873_895del , LRG_578t1:c.873_895del	NP_001051.1:p.Ile292GlufsTer?
NM_201636.2:c.873_895del	NP_963998.2:p.Ile292GlufsTer?
XM_011528214.1:c.873_895del	XP_011526516.1:p.Ile292GlufsTer?
XM_011528214.2:c.873_895del	XP_011526516.1:p.Ile292GlufsTer?
NM_001060.6:c.873_895del MANE Select	NP_001051.1:p.Ile292GlufsTer?
NM_201636.3:c.873_895del	NP_963998.2:p.Ile292GlufsTer?