Canonical Allele Identifier: CA304367781

Gene: TBXA2R

Linked Data

• dbSNP Id: rs998459585
• gnomAD v2: 19-3595483-C-G
• gnomAD v3: 19-3595485-C-G
• gnomAD v4: 19-3595485-C-G
• MyVariant Identifiers: chr19:g.3595483C>G (hg19) ; chr19:g.3595485C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3595485C>G , CM000681.2:g.3595485C>G	GRCh38
NC_000019.9:g.3595483C>G , CM000681.1:g.3595483C>G	GRCh37
NC_000019.8:g.3546483C>G	NCBI36
NG_013363.1:g.16349G>C , LRG_578:g.16349G>C
NG_031943.1:g.14915C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375190.10:c.*203G>C MANE Select	ENSP00000364336.4:n.*203G>C
ENST00000375190.8:c.*203G>C	ENSP00000364336.3:n.*203G>C
ENST00000411851.3:c.983+252G>C	ENSP00000393333.2:n.983+252G>C
ENST00000589966.1:c.*66G>C	ENSP00000468145.1:n.*66G>C
NM_001060.5:c.*203G>C , LRG_578t1:c.*203G>C	NP_001051.1:n.*203G>C
NM_201636.2:c.983+252G>C	NP_963998.2:n.983+252G>C
NM_001060.6:c.*203G>C MANE Select	NP_001051.1:n.*203G>C
NM_201636.3:c.983+252G>C	NP_963998.2:n.983+252G>C