Canonical Allele Identifier: CA7872962

Linked Data

ClinVar Variation Id: 1518508
ClinVar RCV Id: RCV002021796
dbSNP Id: rs371434004
gnomAD v2: 16-4383479-C-T
gnomAD v3: 16-4333478-C-T
gnomAD v4: 16-4333478-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4333478C>T , CM000678.2:g.4333478C>T GRCh38
NC_000016.9:g.4383479C>T , CM000678.1:g.4383479C>T GRCh37
NC_000016.8:g.4323480C>T NCBI36
NG_016391.1:g.6255C>T
NG_016391.2:g.23718C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433375.2:c.304C>T (GLIS2) MANE Select ENSP00000395547.1:p.Arg102Cys
ENST00000262366.7:c.304C>T (GLIS2) ENSP00000262366.3:p.Arg102Cys
ENST00000433375.1:c.304C>T (GLIS2) ENSP00000395547.1:p.Arg102Cys
ENST00000577031.5:c.292-1704G>A (PAM16) ENSP00000459113.1:n.292-1704G>A
NM_032575.2:c.304C>T (GLIS2) NP_115964.2:p.Arg102Cys
XM_005255641.3:c.304C>T (GLIS2) XP_005255698.1:p.Arg102Cys
XM_005255642.2:c.304C>T (GLIS2) XP_005255699.1:p.Arg102Cys
NM_001318918.1:c.304C>T (GLIS2) NP_001305847.1:p.Arg102Cys
XM_005255641.4:c.304C>T (GLIS2) XP_005255698.1:p.Arg102Cys
NM_032575.3:c.304C>T (GLIS2) MANE Select NP_115964.2:p.Arg102Cys
NM_001318918.2:c.304C>T (GLIS2) NP_001305847.1:p.Arg102Cys