Canonical Allele Identifier: CA403330940

Gene: TBXA2R

Linked Data

• dbSNP Id: rs1362152456
• gnomAD v3: 19-3595852-G-C
• gnomAD v4: 19-3595852-G-C
• MyVariant Identifiers: chr19:g.3595850G>C (hg19) ; chr19:g.3595852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595852G>C , CM000681.2:g.3595852G>C	GRCh38
NC_000019.9:g.3595850G>C , CM000681.1:g.3595850G>C	GRCh37
NC_000019.8:g.3546850G>C	NCBI36
NG_013363.1:g.15982C>G , LRG_578:g.15982C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.868C>G MANE Select	ENSP00000364336.4:p.Leu290Val
ENST00000375190.8:c.868C>G	ENSP00000364336.3:p.Leu290Val
ENST00000411851.3:c.868C>G	ENSP00000393333.2:p.Leu290Val
ENST00000589966.1:c.479C>G	ENSP00000468145.1:p.Ala160Gly
NM_001060.5:c.868C>G , LRG_578t1:c.868C>G	NP_001051.1:p.Leu290Val
NM_201636.2:c.868C>G	NP_963998.2:p.Leu290Val
XM_011528214.1:c.868C>G	XP_011526516.1:p.Leu290Val
XM_011528214.2:c.868C>G	XP_011526516.1:p.Leu290Val
NM_001060.6:c.868C>G MANE Select	NP_001051.1:p.Leu290Val
NM_201636.3:c.868C>G	NP_963998.2:p.Leu290Val