Canonical Allele Identifier: CA9080697

Gene: TBXA2R

Linked Data

• dbSNP Id: rs757989202
• ExAC: 19:3595660 C / T
• gnomAD v2: 19-3595660-C-T
• gnomAD v4: 19-3595662-C-T
• MyVariant Identifiers: chr19:g.3595660C>T (hg19) ; chr19:g.3595662C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595662C>T , CM000681.2:g.3595662C>T	GRCh38
NC_000019.9:g.3595660C>T , CM000681.1:g.3595660C>T	GRCh37
NC_000019.8:g.3546660C>T	NCBI36
NG_013363.1:g.16172G>A , LRG_578:g.16172G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.*26G>A MANE Select	ENSP00000364336.4:n.*26G>A
ENST00000375190.8:c.*26G>A	ENSP00000364336.3:n.*26G>A
ENST00000411851.3:c.983+75G>A	ENSP00000393333.2:n.983+75G>A
ENST00000589966.1:c.669G>A	ENSP00000468145.1:p.Ala223=
NM_001060.5:c.*26G>A , LRG_578t1:c.*26G>A	NP_001051.1:n.*26G>A
NM_201636.2:c.983+75G>A	NP_963998.2:n.983+75G>A
XM_011528214.1:c.*26G>A	XP_011526516.1:n.*26G>A
XM_011528214.2:c.*26G>A	XP_011526516.1:n.*26G>A
NM_001060.6:c.*26G>A MANE Select	NP_001051.1:n.*26G>A
NM_201636.3:c.983+75G>A	NP_963998.2:n.983+75G>A