Canonical Allele Identifier: CA9080718

Gene: TBXA2R

Linked Data

• dbSNP Id: rs781210834
• ExAC: 19:3595709 T / C
• gnomAD v2: 19-3595709-T-C
• gnomAD v4: 19-3595711-T-C
• MyVariant Identifiers: chr19:g.3595709T>C (hg19) ; chr19:g.3595711T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595711T>C , CM000681.2:g.3595711T>C	GRCh38
NC_000019.9:g.3595709T>C , CM000681.1:g.3595709T>C	GRCh37
NC_000019.8:g.3546709T>C	NCBI36
NG_013363.1:g.16123A>G , LRG_578:g.16123A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.1009A>G MANE Select	ENSP00000364336.4:p.Thr337Ala
ENST00000375190.8:c.1009A>G	ENSP00000364336.3:p.Thr337Ala
ENST00000411851.3:c.983+26A>G	ENSP00000393333.2:n.983+26A>G
ENST00000589966.1:c.620A>G	ENSP00000468145.1:p.His207Arg
NM_001060.5:c.1009A>G , LRG_578t1:c.1009A>G	NP_001051.1:p.Thr337Ala
NM_201636.2:c.983+26A>G	NP_963998.2:n.983+26A>G
XM_011528214.1:c.1009A>G	XP_011526516.1:p.Thr337Ala
XM_011528214.2:c.1009A>G	XP_011526516.1:p.Thr337Ala
NM_001060.6:c.1009A>G MANE Select	NP_001051.1:p.Thr337Ala
NM_201636.3:c.983+26A>G	NP_963998.2:n.983+26A>G