Canonical Allele Identifier: CA10583997

Gene: GLIS2 PAM16

Linked Data

• ClinVar Variation Id: 242364
• ClinVar RCV Id: RCV000234831 ; RCV001824027
• dbSNP Id: rs878855335
• MyVariant Identifiers: chr16:g.4385395G>T (hg19) ; chr16:g.4335394G>T (hg38)
• PubMed: PMID:27336129

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4335394G>T , CM000678.2:g.4335394G>T	GRCh38
NC_000016.9:g.4385395G>T , CM000678.1:g.4385395G>T	GRCh37
NC_000016.8:g.4325396G>T	NCBI36
NG_016391.1:g.8171G>T
NG_016391.2:g.25634G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433375.2:c.775+1G>T (GLIS2) MANE Select	ENSP00000395547.1:n.775+1G>T
ENST00000262366.7:c.775+1G>T (GLIS2)	ENSP00000262366.3:n.775+1G>T
ENST00000433375.1:c.775+1G>T (GLIS2)	ENSP00000395547.1:n.775+1G>T
ENST00000577031.5:c.292-3620C>A (PAM16)	ENSP00000459113.1:n.292-3620C>A
NM_032575.2:c.775+1G>T (GLIS2)	NP_115964.2:n.775+1G>T
XM_005255641.3:c.775+1G>T (GLIS2)	XP_005255698.1:n.775+1G>T
XM_005255642.2:c.775+1G>T (GLIS2)	XP_005255699.1:n.775+1G>T
NM_001318918.1:c.775+1G>T (GLIS2)	NP_001305847.1:n.775+1G>T
XM_005255641.4:c.775+1G>T (GLIS2)	XP_005255698.1:n.775+1G>T
NM_032575.3:c.775+1G>T (GLIS2) MANE Select	NP_115964.2:n.775+1G>T
NM_001318918.2:c.775+1G>T (GLIS2)	NP_001305847.1:n.775+1G>T