Canonical Allele Identifier: CA2584493651

Gene: TBXA2R

Linked Data

• gnomAD v4: 19-3595388-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595388_3595389insG , CM000681.2:g.3595388_3595389insG	GRCh38
NC_000019.9:g.3595386_3595387insG , CM000681.1:g.3595386_3595387insG	GRCh37
NC_000019.8:g.3546386_3546387insG	NCBI36
NG_013363.1:g.16445_16446insC , LRG_578:g.16445_16446insC
NG_031943.1:g.14818_14819insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.*299_*300insC MANE Select	ENSP00000364336.4:n.*299_*300insC
ENST00000375190.8:c.*299_*300insC	ENSP00000364336.3:n.*299_*300insC
ENST00000411851.3:c.984-313_984-312insC	ENSP00000393333.2:n.984-313_984-312insC
ENST00000589966.1:c.*162_*163insC	ENSP00000468145.1:n.*162_*163insC
NM_001060.5:c.*299_*300insC , LRG_578t1:c.*299_*300insC	NP_001051.1:n.*299_*300insC
NM_201636.2:c.984-313_984-312insC	NP_963998.2:n.984-313_984-312insC
NM_001060.6:c.*299_*300insC MANE Select	NP_001051.1:n.*299_*300insC
NM_201636.3:c.984-313_984-312insC	NP_963998.2:n.984-313_984-312insC