Canonical Allele Identifier: CA9080771

Gene: TBXA2R

Linked Data

• ClinVar Variation Id: 2887169
• ClinVar RCV Id: RCV003722249
• dbSNP Id: rs771745542
• ExAC: 19:3595908 C / A
• gnomAD v2: 19-3595908-C-A
• gnomAD v3: 19-3595910-C-A
• gnomAD v4: 19-3595910-C-A
• MyVariant Identifiers: chr19:g.3595908C>A (hg19) ; chr19:g.3595910C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595910C>A , CM000681.2:g.3595910C>A	GRCh38
NC_000019.9:g.3595908C>A , CM000681.1:g.3595908C>A	GRCh37
NC_000019.8:g.3546908C>A	NCBI36
NG_013363.1:g.15924G>T , LRG_578:g.15924G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.810G>T MANE Select	ENSP00000364336.4:p.Leu270=
ENST00000375190.8:c.810G>T	ENSP00000364336.3:p.Leu270=
ENST00000411851.3:c.810G>T	ENSP00000393333.2:p.Leu270=
ENST00000589966.1:c.421G>T	ENSP00000468145.1:p.Ala141Ser
NM_001060.5:c.810G>T , LRG_578t1:c.810G>T	NP_001051.1:p.Leu270=
NM_201636.2:c.810G>T	NP_963998.2:p.Leu270=
XM_011528214.1:c.810G>T	XP_011526516.1:p.Leu270=
XM_011528214.2:c.810G>T	XP_011526516.1:p.Leu270=
NM_001060.6:c.810G>T MANE Select	NP_001051.1:p.Leu270=
NM_201636.3:c.810G>T	NP_963998.2:p.Leu270=