Canonical Allele Identifier: CA9080710
Gene: TBXA2R HGNC NCBI

Linked Data

ClinVar Variation Id: 3019619
ClinVar RCV Id: RCV003874730
dbSNP Id: rs775815868
ExAC: 19:3595690 T / C
gnomAD v2: 19-3595690-T-C
gnomAD v3: 19-3595692-T-C
gnomAD v4: 19-3595692-T-C
MyVariant Identifiers: chr19:g.3595690T>C (hg19) chr19:g.3595692T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595692T>C , CM000681.2:g.3595692T>C GRCh38
NC_000019.9:g.3595690T>C , CM000681.1:g.3595690T>C GRCh37
NC_000019.8:g.3546690T>C NCBI36
NG_013363.1:g.16142A>G , LRG_578:g.16142A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.1028A>G MANE Select ENSP00000364336.4:p.Gln343Arg
ENST00000375190.8:c.1028A>G ENSP00000364336.3:p.Gln343Arg
ENST00000411851.3:c.983+45A>G ENSP00000393333.2:n.983+45A>G
ENST00000589966.1:c.639A>G ENSP00000468145.1:p.Ala213=
NM_001060.5:c.1028A>G , LRG_578t1:c.1028A>G NP_001051.1:p.Gln343Arg
NM_201636.2:c.983+45A>G NP_963998.2:n.983+45A>G
XM_011528214.1:c.1028A>G XP_011526516.1:p.Gln343Arg
XM_011528214.2:c.1028A>G XP_011526516.1:p.Gln343Arg
NM_001060.6:c.1028A>G MANE Select NP_001051.1:p.Gln343Arg
NM_201636.3:c.983+45A>G NP_963998.2:n.983+45A>G
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