Canonical Allele Identifier: CA304367929

Gene: TBXA2R

Linked Data

• ClinVar Variation Id: 627148
• ClinVar RCV Id: RCV000851900
• dbSNP Id: rs201364793
• gnomAD v3: 19-3595872-G-C
• gnomAD v4: 19-3595872-G-C
• MyVariant Identifiers: chr19:g.3595870G>C (hg19) ; chr19:g.3595872G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595872G>C , CM000681.2:g.3595872G>C	GRCh38
NC_000019.9:g.3595870G>C , CM000681.1:g.3595870G>C	GRCh37
NC_000019.8:g.3546870G>C	NCBI36
NG_013363.1:g.15962C>G , LRG_578:g.15962C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.848C>G MANE Select	ENSP00000364336.4:p.Ser283Cys
ENST00000375190.8:c.848C>G	ENSP00000364336.3:p.Ser283Cys
ENST00000411851.3:c.848C>G	ENSP00000393333.2:p.Ser283Cys
ENST00000589966.1:c.459C>G	ENSP00000468145.1:p.Val153=
NM_001060.5:c.848C>G , LRG_578t1:c.848C>G	NP_001051.1:p.Ser283Cys
NM_201636.2:c.848C>G	NP_963998.2:p.Ser283Cys
XM_011528214.1:c.848C>G	XP_011526516.1:p.Ser283Cys
XM_011528214.2:c.848C>G	XP_011526516.1:p.Ser283Cys
NM_001060.6:c.848C>G MANE Select	NP_001051.1:p.Ser283Cys
NM_201636.3:c.848C>G	NP_963998.2:p.Ser283Cys