Canonical Allele Identifier: CA277073919

Gene: GLIS2 PAM16

Linked Data

• dbSNP Id: rs1055669281
• gnomAD v2: 16-4383411-T-A
• gnomAD v3: 16-4333410-T-A
• gnomAD v4: 16-4333410-T-A
• MyVariant Identifiers: chr16:g.4383411T>A (hg19) ; chr16:g.4333410T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4333410T>A , CM000678.2:g.4333410T>A	GRCh38
NC_000016.9:g.4383411T>A , CM000678.1:g.4383411T>A	GRCh37
NC_000016.8:g.4323412T>A	NCBI36
NG_016391.1:g.6187T>A
NG_016391.2:g.23650T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433375.2:c.236T>A (GLIS2) MANE Select	ENSP00000395547.1:p.Val79Glu
ENST00000262366.7:c.236T>A (GLIS2)	ENSP00000262366.3:p.Val79Glu
ENST00000433375.1:c.236T>A (GLIS2)	ENSP00000395547.1:p.Val79Glu
ENST00000577031.5:c.292-1636A>T (PAM16)	ENSP00000459113.1:n.292-1636A>T
NM_032575.2:c.236T>A (GLIS2)	NP_115964.2:p.Val79Glu
XM_005255641.3:c.236T>A (GLIS2)	XP_005255698.1:p.Val79Glu
XM_005255642.2:c.236T>A (GLIS2)	XP_005255699.1:p.Val79Glu
NM_001318918.1:c.236T>A (GLIS2)	NP_001305847.1:p.Val79Glu
XM_005255641.4:c.236T>A (GLIS2)	XP_005255698.1:p.Val79Glu
NM_032575.3:c.236T>A (GLIS2) MANE Select	NP_115964.2:p.Val79Glu
NM_001318918.2:c.236T>A (GLIS2)	NP_001305847.1:p.Val79Glu