Canonical Allele Identifier: CA17270696
Gene: UTS2 HGNC NCBI

Linked Data

dbSNP Id: rs80116035
gnomAD v2: 1-7961228-C-T
gnomAD v3: 1-7901168-C-T
gnomAD v4: 1-7901168-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7901168C>T , CM000663.2:g.7901168C>T GRCh38
NC_000001.10:g.7961228C>T , CM000663.1:g.7961228C>T GRCh37
NC_000001.9:g.7883815C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011540537.1:c.-75+12013G>A XP_011538839.1:n.-75+12013G>A
XM_011540537.2:c.-75+12013G>A XP_011538839.1:n.-75+12013G>A
XM_017000116.1:c.-75+12013G>A XP_016855605.1:n.-75+12013G>A
XM_017000119.1:c.-75+12013G>A XP_016855608.1:n.-75+12013G>A