Canonical Allele Identifier: CA403331183
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs1452036491
gnomAD v2: 19-3595892-T-G
gnomAD v3: 19-3595894-T-G
gnomAD v4: 19-3595894-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595894T>G , CM000681.2:g.3595894T>G GRCh38
NC_000019.9:g.3595892T>G , CM000681.1:g.3595892T>G GRCh37
NC_000019.8:g.3546892T>G NCBI36
NG_013363.1:g.15940A>C , LRG_578:g.15940A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.826A>C MANE Select ENSP00000364336.4:p.Met276Leu
ENST00000375190.8:c.826A>C ENSP00000364336.3:p.Met276Leu
ENST00000411851.3:c.826A>C ENSP00000393333.2:p.Met276Leu
ENST00000589966.1:c.437A>C ENSP00000468145.1:p.His146Pro
NM_001060.5:c.826A>C , LRG_578t1:c.826A>C NP_001051.1:p.Met276Leu
NM_201636.2:c.826A>C NP_963998.2:p.Met276Leu
XM_011528214.1:c.826A>C XP_011526516.1:p.Met276Leu
XM_011528214.2:c.826A>C XP_011526516.1:p.Met276Leu
NM_001060.6:c.826A>C MANE Select NP_001051.1:p.Met276Leu
NM_201636.3:c.826A>C NP_963998.2:p.Met276Leu