Canonical Allele Identifier: CA126244
Gene: TACSTD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 16182
ClinVar RCV Id: RCV000017566
dbSNP Id: rs80358223
gnomAD v2: 1-59042477-G-A
gnomAD v3: 1-58576805-G-A
gnomAD v4: 1-58576805-G-A
MyVariant Identifiers: chr1:g.59042477G>A (hg19) chr1:g.58576805G>A (hg38)
PubMed: PMID:10192395
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.58576805G>A , CM000663.2:g.58576805G>A GRCh38
NC_000001.10:g.59042477G>A , CM000663.1:g.59042477G>A GRCh37
NC_000001.9:g.58815065G>A NCBI36
NG_016237.1:g.5690C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371225.4:c.352C>T MANE Select ENSP00000360269.2:p.Gln118Ter
ENST00000371225.3:c.352C>T ENSP00000360269.2:p.Gln118Ter
NM_002353.2:c.352C>T NP_002344.2:p.Gln118Ter
NM_002353.3:c.352C>T MANE Select NP_002344.2:p.Gln118Ter
Search 100 bp 5'
Search 100 bp 3'