Canonical Allele Identifier: CA403330580

Gene: TBXA2R

Linked Data

• dbSNP Id: rs1306938027
• gnomAD v2: 19-3595800-C-G
• gnomAD v4: 19-3595802-C-G
• MyVariant Identifiers: chr19:g.3595800C>G (hg19) ; chr19:g.3595802C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595802C>G , CM000681.2:g.3595802C>G	GRCh38
NC_000019.9:g.3595800C>G , CM000681.1:g.3595800C>G	GRCh37
NC_000019.8:g.3546800C>G	NCBI36
NG_013363.1:g.16032G>C , LRG_578:g.16032G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.918G>C MANE Select	ENSP00000364336.4:p.Trp306Cys
ENST00000375190.8:c.918G>C	ENSP00000364336.3:p.Trp306Cys
ENST00000411851.3:c.918G>C	ENSP00000393333.2:p.Trp306Cys
ENST00000589966.1:c.529G>C	ENSP00000468145.1:p.Gly177Arg
NM_001060.5:c.918G>C , LRG_578t1:c.918G>C	NP_001051.1:p.Trp306Cys
NM_201636.2:c.918G>C	NP_963998.2:p.Trp306Cys
XM_011528214.1:c.918G>C	XP_011526516.1:p.Trp306Cys
XM_011528214.2:c.918G>C	XP_011526516.1:p.Trp306Cys
NM_001060.6:c.918G>C MANE Select	NP_001051.1:p.Trp306Cys
NM_201636.3:c.918G>C	NP_963998.2:p.Trp306Cys