Canonical Allele Identifier: CA403331232
Gene: TBXA2R HGNC NCBI

Linked Data

dbSNP Id: rs1315507100
gnomAD v2: 19-3595902-G-T
gnomAD v4: 19-3595904-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595904G>T , CM000681.2:g.3595904G>T GRCh38
NC_000019.9:g.3595902G>T , CM000681.1:g.3595902G>T GRCh37
NC_000019.8:g.3546902G>T NCBI36
NG_013363.1:g.15930C>A , LRG_578:g.15930C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.816C>A MANE Select ENSP00000364336.4:p.Asn272Lys
ENST00000375190.8:c.816C>A ENSP00000364336.3:p.Asn272Lys
ENST00000411851.3:c.816C>A ENSP00000393333.2:p.Asn272Lys
ENST00000589966.1:c.427C>A ENSP00000468145.1:p.Pro143Thr
NM_001060.5:c.816C>A , LRG_578t1:c.816C>A NP_001051.1:p.Asn272Lys
NM_201636.2:c.816C>A NP_963998.2:p.Asn272Lys
XM_011528214.1:c.816C>A XP_011526516.1:p.Asn272Lys
XM_011528214.2:c.816C>A XP_011526516.1:p.Asn272Lys
NM_001060.6:c.816C>A MANE Select NP_001051.1:p.Asn272Lys
NM_201636.3:c.816C>A NP_963998.2:p.Asn272Lys