Canonical Allele Identifier: CA992743551
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs2032577722
gnomAD v3: 19-3595388-A-G
gnomAD v4: 19-3595388-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595388A>G , CM000681.2:g.3595388A>G GRCh38
NC_000019.9:g.3595386A>G , CM000681.1:g.3595386A>G GRCh37
NC_000019.8:g.3546386A>G NCBI36
NG_013363.1:g.16446T>C , LRG_578:g.16446T>C
NG_031943.1:g.14818A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.*300T>C MANE Select ENSP00000364336.4:n.*300T>C
ENST00000375190.8:c.*300T>C ENSP00000364336.3:n.*300T>C
ENST00000411851.3:c.984-312T>C ENSP00000393333.2:n.984-312T>C
ENST00000589966.1:c.*163T>C ENSP00000468145.1:n.*163T>C
NM_001060.5:c.*300T>C , LRG_578t1:c.*300T>C NP_001051.1:n.*300T>C
NM_201636.2:c.984-312T>C NP_963998.2:n.984-312T>C
NM_001060.6:c.*300T>C MANE Select NP_001051.1:n.*300T>C
NM_201636.3:c.984-312T>C NP_963998.2:n.984-312T>C
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