Canonical Allele Identifier: CA9080767
Gene: TBXA2R HGNC NCBI

Linked Data

ClinVar Variation Id: 2990297
ClinVar RCV Id: RCV003844992
dbSNP Id: rs748532736
ExAC: 19:3595895 C / G
gnomAD v2: 19-3595895-C-G
gnomAD v3: 19-3595897-C-G
gnomAD v4: 19-3595897-C-G
MyVariant Identifiers: chr19:g.3595895C>G (hg19) chr19:g.3595897C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595897C>G , CM000681.2:g.3595897C>G GRCh38
NC_000019.9:g.3595895C>G , CM000681.1:g.3595895C>G GRCh37
NC_000019.8:g.3546895C>G NCBI36
NG_013363.1:g.15937G>C , LRG_578:g.15937G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.823G>C MANE Select ENSP00000364336.4:p.Ala275Pro
ENST00000375190.8:c.823G>C ENSP00000364336.3:p.Ala275Pro
ENST00000411851.3:c.823G>C ENSP00000393333.2:p.Ala275Pro
ENST00000589966.1:c.434G>C ENSP00000468145.1:p.Cys145Ser
NM_001060.5:c.823G>C , LRG_578t1:c.823G>C NP_001051.1:p.Ala275Pro
NM_201636.2:c.823G>C NP_963998.2:p.Ala275Pro
XM_011528214.1:c.823G>C XP_011526516.1:p.Ala275Pro
XM_011528214.2:c.823G>C XP_011526516.1:p.Ala275Pro
NM_001060.6:c.823G>C MANE Select NP_001051.1:p.Ala275Pro
NM_201636.3:c.823G>C NP_963998.2:p.Ala275Pro
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