Canonical Allele Identifier: CA278429

Gene: GLIS2 PAM16

Linked Data

• ClinVar Variation Id: 127160
• ClinVar RCV Id: RCV000115016 ; RCV000234822
• dbSNP Id: rs587777353
• MyVariant Identifiers: chr16:g.4385061T>C (hg19) ; chr16:g.4335060T>C (hg38)
• PubMed: PMID:23559409 ; PMID:27336129

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4335060T>C , CM000678.2:g.4335060T>C	GRCh38
NC_000016.9:g.4385061T>C , CM000678.1:g.4385061T>C	GRCh37
NC_000016.8:g.4325062T>C	NCBI36
NG_016391.1:g.7837T>C
NG_016391.2:g.25300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433375.2:c.523T>C (GLIS2) MANE Select	ENSP00000395547.1:p.Cys175Arg
ENST00000262366.7:c.523T>C (GLIS2)	ENSP00000262366.3:p.Cys175Arg
ENST00000433375.1:c.523T>C (GLIS2)	ENSP00000395547.1:p.Cys175Arg
ENST00000577031.5:c.292-3286A>G (PAM16)	ENSP00000459113.1:n.292-3286A>G
NM_032575.2:c.523T>C (GLIS2)	NP_115964.2:p.Cys175Arg
XM_005255641.3:c.523T>C (GLIS2)	XP_005255698.1:p.Cys175Arg
XM_005255642.2:c.523T>C (GLIS2)	XP_005255699.1:p.Cys175Arg
NM_001318918.1:c.523T>C (GLIS2)	NP_001305847.1:p.Cys175Arg
XM_005255641.4:c.523T>C (GLIS2)	XP_005255698.1:p.Cys175Arg
NM_032575.3:c.523T>C (GLIS2) MANE Select	NP_115964.2:p.Cys175Arg
NM_001318918.2:c.523T>C (GLIS2)	NP_001305847.1:p.Cys175Arg