Canonical Allele Identifier: CA9080758

Gene: TBXA2R

Linked Data

• ClinVar Variation Id: 2482811
• ClinVar RCV Id: RCV003210099
• dbSNP Id: rs200728850
• ExAC: 19:3595868 G / A
• gnomAD v2: 19-3595868-G-A
• gnomAD v4: 19-3595870-G-A
• MyVariant Identifiers: chr19:g.3595868G>A (hg19) ; chr19:g.3595870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595870G>A , CM000681.2:g.3595870G>A	GRCh38
NC_000019.9:g.3595868G>A , CM000681.1:g.3595868G>A	GRCh37
NC_000019.8:g.3546868G>A	NCBI36
NG_013363.1:g.15964C>T , LRG_578:g.15964C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.850C>T MANE Select	ENSP00000364336.4:p.Arg284Cys
ENST00000375190.8:c.850C>T	ENSP00000364336.3:p.Arg284Cys
ENST00000411851.3:c.850C>T	ENSP00000393333.2:p.Arg284Cys
ENST00000589966.1:c.461C>T	ENSP00000468145.1:p.Pro154Leu
NM_001060.5:c.850C>T , LRG_578t1:c.850C>T	NP_001051.1:p.Arg284Cys
NM_201636.2:c.850C>T	NP_963998.2:p.Arg284Cys
XM_011528214.1:c.850C>T	XP_011526516.1:p.Arg284Cys
XM_011528214.2:c.850C>T	XP_011526516.1:p.Arg284Cys
NM_001060.6:c.850C>T MANE Select	NP_001051.1:p.Arg284Cys
NM_201636.3:c.850C>T	NP_963998.2:p.Arg284Cys