Canonical Allele Identifier: CA9080745

Gene: TBXA2R

Linked Data

• dbSNP Id: rs772261546
• ExAC: 19:3595832 C / T
• gnomAD v2: 19-3595832-C-T
• gnomAD v4: 19-3595834-C-T
• MyVariant Identifiers: chr19:g.3595832C>T (hg19) ; chr19:g.3595834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595834C>T , CM000681.2:g.3595834C>T	GRCh38
NC_000019.9:g.3595832C>T , CM000681.1:g.3595832C>T	GRCh37
NC_000019.8:g.3546832C>T	NCBI36
NG_013363.1:g.16000G>A , LRG_578:g.16000G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.886G>A MANE Select	ENSP00000364336.4:p.Val296Met
ENST00000375190.8:c.886G>A	ENSP00000364336.3:p.Val296Met
ENST00000411851.3:c.886G>A	ENSP00000393333.2:p.Val296Met
ENST00000589966.1:c.497G>A	ENSP00000468145.1:p.Arg166His
NM_001060.5:c.886G>A , LRG_578t1:c.886G>A	NP_001051.1:p.Val296Met
NM_201636.2:c.886G>A	NP_963998.2:p.Val296Met
XM_011528214.1:c.886G>A	XP_011526516.1:p.Val296Met
XM_011528214.2:c.886G>A	XP_011526516.1:p.Val296Met
NM_001060.6:c.886G>A MANE Select	NP_001051.1:p.Val296Met
NM_201636.3:c.886G>A	NP_963998.2:p.Val296Met