Canonical Allele Identifier: CA2580096153

Gene: TBXA2R

Linked Data

• ClinVar Variation Id: 1953769
• ClinVar RCV Id: RCV002700483

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595700_3595706del , CM000681.2:g.3595700_3595706del	GRCh38
NC_000019.9:g.3595698_3595704del , CM000681.1:g.3595698_3595704del	GRCh37
NC_000019.8:g.3546698_3546704del	NCBI36
NG_013363.1:g.16129_16135del , LRG_578:g.16129_16135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.1015_1021del MANE Select	ENSP00000364336.4:p.Arg339GlyfsTer29
ENST00000375190.8:c.1015_1021del	ENSP00000364336.3:p.Arg339GlyfsTer29
ENST00000411851.3:c.983+32_983+38del	ENSP00000393333.2:n.983+32_983+38del
ENST00000589966.1:c.626_632del	ENSP00000468145.1:p.Ala209GlyfsTer4
NM_001060.5:c.1015_1021del , LRG_578t1:c.1015_1021del	NP_001051.1:p.Arg339GlyfsTer29
NM_201636.2:c.983+32_983+38del	NP_963998.2:n.983+32_983+38del
XM_011528214.1:c.1015_1021del	XP_011526516.1:p.Arg339GlyfsTer29
XM_011528214.2:c.1015_1021del	XP_011526516.1:p.Arg339GlyfsTer29
NM_001060.6:c.1015_1021del MANE Select	NP_001051.1:p.Arg339GlyfsTer29
NM_201636.3:c.983+32_983+38del	NP_963998.2:n.983+32_983+38del