Canonical Allele Identifier: CA304367762
Gene: TBXA2R HGNC NCBI

Linked Data

ClinVar Variation Id: 1252629
ClinVar RCV Id: RCV001660926
dbSNP Id: rs8100569
gnomAD v2: 19-3595404-C-G
gnomAD v3: 19-3595406-C-G
gnomAD v4: 19-3595406-C-G
MyVariant Identifiers: chr19:g.3595404C>G (hg19) chr19:g.3595406C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595406C>G , CM000681.2:g.3595406C>G GRCh38
NC_000019.9:g.3595404C>G , CM000681.1:g.3595404C>G GRCh37
NC_000019.8:g.3546404C>G NCBI36
NG_013363.1:g.16428G>C , LRG_578:g.16428G>C
NG_031943.1:g.14836C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.*282G>C MANE Select ENSP00000364336.4:n.*282G>C
ENST00000375190.8:c.*282G>C ENSP00000364336.3:n.*282G>C
ENST00000411851.3:c.984-330G>C ENSP00000393333.2:n.984-330G>C
ENST00000589966.1:c.*145G>C ENSP00000468145.1:n.*145G>C
NM_001060.5:c.*282G>C , LRG_578t1:c.*282G>C NP_001051.1:n.*282G>C
NM_201636.2:c.984-330G>C NP_963998.2:n.984-330G>C
NM_001060.6:c.*282G>C MANE Select NP_001051.1:n.*282G>C
NM_201636.3:c.984-330G>C NP_963998.2:n.984-330G>C
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