Canonical Allele Identifier: CA403331114
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs1184180340
gnomAD v2: 19-3595876-T-G
gnomAD v4: 19-3595878-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595878T>G , CM000681.2:g.3595878T>G GRCh38
NC_000019.9:g.3595876T>G , CM000681.1:g.3595876T>G GRCh37
NC_000019.8:g.3546876T>G NCBI36
NG_013363.1:g.15956A>C , LRG_578:g.15956A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.842A>C MANE Select ENSP00000364336.4:p.Gln281Pro
ENST00000375190.8:c.842A>C ENSP00000364336.3:p.Gln281Pro
ENST00000411851.3:c.842A>C ENSP00000393333.2:p.Gln281Pro
ENST00000589966.1:c.453A>C ENSP00000468145.1:p.Ala151=
NM_001060.5:c.842A>C , LRG_578t1:c.842A>C NP_001051.1:p.Gln281Pro
NM_201636.2:c.842A>C NP_963998.2:p.Gln281Pro
XM_011528214.1:c.842A>C XP_011526516.1:p.Gln281Pro
XM_011528214.2:c.842A>C XP_011526516.1:p.Gln281Pro
NM_001060.6:c.842A>C MANE Select NP_001051.1:p.Gln281Pro
NM_201636.3:c.842A>C NP_963998.2:p.Gln281Pro