Canonical Allele Identifier: CA403329911

Gene: TBXA2R

Linked Data

• dbSNP Id: rs1418705002
• gnomAD v2: 19-3595717-G-C
• gnomAD v4: 19-3595719-G-C
• MyVariant Identifiers: chr19:g.3595717G>C (hg19) ; chr19:g.3595719G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595719G>C , CM000681.2:g.3595719G>C	GRCh38
NC_000019.9:g.3595717G>C , CM000681.1:g.3595717G>C	GRCh37
NC_000019.8:g.3546717G>C	NCBI36
NG_013363.1:g.16115C>G , LRG_578:g.16115C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.1001C>G MANE Select	ENSP00000364336.4:p.Pro334Arg
ENST00000375190.8:c.1001C>G	ENSP00000364336.3:p.Pro334Arg
ENST00000411851.3:c.983+18C>G	ENSP00000393333.2:n.983+18C>G
ENST00000589966.1:c.612C>G	ENSP00000468145.1:p.Ala204=
NM_001060.5:c.1001C>G , LRG_578t1:c.1001C>G	NP_001051.1:p.Pro334Arg
NM_201636.2:c.983+18C>G	NP_963998.2:n.983+18C>G
XM_011528214.1:c.1001C>G	XP_011526516.1:p.Pro334Arg
XM_011528214.2:c.1001C>G	XP_011526516.1:p.Pro334Arg
NM_001060.6:c.1001C>G MANE Select	NP_001051.1:p.Pro334Arg
NM_201636.3:c.983+18C>G	NP_963998.2:n.983+18C>G