Canonical Allele Identifier: CA304367881

Gene: TBXA2R

Linked Data

• dbSNP Id: rs563919263
• gnomAD v2: 19-3595702-C-G
• gnomAD v3: 19-3595704-C-G
• gnomAD v4: 19-3595704-C-G
• MyVariant Identifiers: chr19:g.3595702C>G (hg19) ; chr19:g.3595704C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595704C>G , CM000681.2:g.3595704C>G	GRCh38
NC_000019.9:g.3595702C>G , CM000681.1:g.3595702C>G	GRCh37
NC_000019.8:g.3546702C>G	NCBI36
NG_013363.1:g.16130G>C , LRG_578:g.16130G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375190.10:c.1016G>C MANE Select	ENSP00000364336.4:p.Arg339Pro
ENST00000375190.8:c.1016G>C	ENSP00000364336.3:p.Arg339Pro
ENST00000411851.3:c.983+33G>C	ENSP00000393333.2:n.983+33G>C
ENST00000589966.1:c.627G>C	ENSP00000468145.1:p.Ala209=
NM_001060.5:c.1016G>C , LRG_578t1:c.1016G>C	NP_001051.1:p.Arg339Pro
NM_201636.2:c.983+33G>C	NP_963998.2:n.983+33G>C
XM_011528214.1:c.1016G>C	XP_011526516.1:p.Arg339Pro
XM_011528214.2:c.1016G>C	XP_011526516.1:p.Arg339Pro
NM_001060.6:c.1016G>C MANE Select	NP_001051.1:p.Arg339Pro
NM_201636.3:c.983+33G>C	NP_963998.2:n.983+33G>C