Canonical Allele Identifier: CA241809
Gene: GLIS2 HGNC NCBI
PAM16 HGNC NCBI

Linked Data

ClinVar Variation Id: 195389
ClinVar RCV Id: RCV000175958 RCV001116957 RCV001079077 RCV004020088 RCV003917633
dbSNP Id: rs144447862
ExAC: 16:4383414 A / T
gnomAD v2: 16-4383414-A-T
gnomAD v3: 16-4333413-A-T
gnomAD v4: 16-4333413-A-T
MyVariant Identifiers: chr16:g.4383414A>T (hg19) chr16:g.4333413A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4333413A>T , CM000678.2:g.4333413A>T GRCh38
NC_000016.9:g.4383414A>T , CM000678.1:g.4383414A>T GRCh37
NC_000016.8:g.4323415A>T NCBI36
NG_016391.1:g.6190A>T
NG_016391.2:g.23653A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433375.2:c.239A>T (GLIS2) MANE Select ENSP00000395547.1:p.Asp80Val
ENST00000262366.7:c.239A>T (GLIS2) ENSP00000262366.3:p.Asp80Val
ENST00000433375.1:c.239A>T (GLIS2) ENSP00000395547.1:p.Asp80Val
ENST00000577031.5:c.292-1639T>A (PAM16) ENSP00000459113.1:n.292-1639T>A
NM_032575.2:c.239A>T (GLIS2) NP_115964.2:p.Asp80Val
XM_005255641.3:c.239A>T (GLIS2) XP_005255698.1:p.Asp80Val
XM_005255642.2:c.239A>T (GLIS2) XP_005255699.1:p.Asp80Val
NM_001318918.1:c.239A>T (GLIS2) NP_001305847.1:p.Asp80Val
XM_005255641.4:c.239A>T (GLIS2) XP_005255698.1:p.Asp80Val
NM_032575.3:c.239A>T (GLIS2) MANE Select NP_115964.2:p.Asp80Val
NM_001318918.2:c.239A>T (GLIS2) NP_001305847.1:p.Asp80Val
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