Canonical Allele Identifier: CA631712350
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs1242604992
gnomAD v2: 19-3595678-T-C
gnomAD v4: 19-3595680-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595680T>C , CM000681.2:g.3595680T>C GRCh38
NC_000019.9:g.3595678T>C , CM000681.1:g.3595678T>C GRCh37
NC_000019.8:g.3546678T>C NCBI36
NG_013363.1:g.16154A>G , LRG_578:g.16154A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.*8A>G MANE Select ENSP00000364336.4:n.*8A>G
ENST00000375190.8:c.*8A>G ENSP00000364336.3:n.*8A>G
ENST00000411851.3:c.983+57A>G ENSP00000393333.2:n.983+57A>G
ENST00000589966.1:c.651A>G ENSP00000468145.1:p.Gly217=
NM_001060.5:c.*8A>G , LRG_578t1:c.*8A>G NP_001051.1:n.*8A>G
NM_201636.2:c.983+57A>G NP_963998.2:n.983+57A>G
XM_011528214.1:c.*8A>G XP_011526516.1:n.*8A>G
XM_011528214.2:c.*8A>G XP_011526516.1:n.*8A>G
NM_001060.6:c.*8A>G MANE Select NP_001051.1:n.*8A>G
NM_201636.3:c.983+57A>G NP_963998.2:n.983+57A>G