Canonical Allele Identifier: CA304367755
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs919139445
gnomAD v2: 19-3595375-TA-T
gnomAD v3: 19-3595377-TA-T
gnomAD v4: 19-3595377-TA-T
MyVariant Identifiers: chr19:g.3595376del (hg19) chr19:g.3595378del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595388del , CM000681.2:g.3595388del GRCh38
NC_000019.9:g.3595386del , CM000681.1:g.3595386del GRCh37
NC_000019.8:g.3546386del NCBI36
NG_013363.1:g.16456del , LRG_578:g.16456del
NG_031943.1:g.14818del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.*310del MANE Select ENSP00000364336.4:n.*310del
ENST00000375190.8:c.*310del ENSP00000364336.3:n.*310del
ENST00000411851.3:c.984-302del ENSP00000393333.2:n.984-302del
ENST00000589966.1:c.*173del ENSP00000468145.1:n.*173del
NM_001060.5:c.*310del , LRG_578t1:c.*310del NP_001051.1:n.*310del
NM_201636.2:c.984-302del NP_963998.2:n.984-302del
NM_001060.6:c.*310del MANE Select NP_001051.1:n.*310del
NM_201636.3:c.984-302del NP_963998.2:n.984-302del
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