Canonical Allele Identifier: CA9080719

Gene: TBXA2R

Linked Data

• dbSNP Id: rs752570030
• ExAC: 19:3595710 G / A
• gnomAD v2: 19-3595710-G-A
• gnomAD v3: 19-3595712-G-A
• gnomAD v4: 19-3595712-G-A
• MyVariant Identifiers: chr19:g.3595710G>A (hg19) ; chr19:g.3595712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595712G>A , CM000681.2:g.3595712G>A	GRCh38
NC_000019.9:g.3595710G>A , CM000681.1:g.3595710G>A	GRCh37
NC_000019.8:g.3546710G>A	NCBI36
NG_013363.1:g.16122C>T , LRG_578:g.16122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.1008C>T MANE Select	ENSP00000364336.4:p.Leu336=
ENST00000375190.8:c.1008C>T	ENSP00000364336.3:p.Leu336=
ENST00000411851.3:c.983+25C>T	ENSP00000393333.2:n.983+25C>T
ENST00000589966.1:c.619C>T	ENSP00000468145.1:p.His207Tyr
NM_001060.5:c.1008C>T , LRG_578t1:c.1008C>T	NP_001051.1:p.Leu336=
NM_201636.2:c.983+25C>T	NP_963998.2:n.983+25C>T
XM_011528214.1:c.1008C>T	XP_011526516.1:p.Leu336=
XM_011528214.2:c.1008C>T	XP_011526516.1:p.Leu336=
NM_001060.6:c.1008C>T MANE Select	NP_001051.1:p.Leu336=
NM_201636.3:c.983+25C>T	NP_963998.2:n.983+25C>T