Canonical Allele Identifier: CA403329981

Gene: TBXA2R

Linked Data

• ClinVar Variation Id: 3011566
• ClinVar RCV Id: RCV003872629
• gnomAD v4: 19-3595725-A-G
• MyVariant Identifiers: chr19:g.3595723A>G (hg19) ; chr19:g.3595725A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595725A>G , CM000681.2:g.3595725A>G	GRCh38
NC_000019.9:g.3595723A>G , CM000681.1:g.3595723A>G	GRCh37
NC_000019.8:g.3546723A>G	NCBI36
NG_013363.1:g.16109T>C , LRG_578:g.16109T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.995T>C MANE Select	ENSP00000364336.4:p.Leu332Pro
ENST00000375190.8:c.995T>C	ENSP00000364336.3:p.Leu332Pro
ENST00000411851.3:c.983+12T>C	ENSP00000393333.2:n.983+12T>C
ENST00000589966.1:c.606T>C	ENSP00000468145.1:p.Pro202=
NM_001060.5:c.995T>C , LRG_578t1:c.995T>C	NP_001051.1:p.Leu332Pro
NM_201636.2:c.983+12T>C	NP_963998.2:n.983+12T>C
XM_011528214.1:c.995T>C	XP_011526516.1:p.Leu332Pro
XM_011528214.2:c.995T>C	XP_011526516.1:p.Leu332Pro
NM_001060.6:c.995T>C MANE Select	NP_001051.1:p.Leu332Pro
NM_201636.3:c.983+12T>C	NP_963998.2:n.983+12T>C