Canonical Allele Identifier: CA348424

Gene: GLIS2 PAM16

Linked Data

• ClinVar Variation Id: 220046
• ClinVar RCV Id: RCV000204182 ; RCV001094256
• dbSNP Id: rs775114398
• ExAC: 16:4387130 G / A
• gnomAD v2: 16-4387130-G-A
• gnomAD v3: 16-4337129-G-A
• gnomAD v4: 16-4337129-G-A
• MyVariant Identifiers: chr16:g.4387130G>A (hg19) ; chr16:g.4337129G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4337129G>A , CM000678.2:g.4337129G>A	GRCh38
NC_000016.9:g.4387130G>A , CM000678.1:g.4387130G>A	GRCh37
NC_000016.8:g.4327131G>A	NCBI36
NG_016391.1:g.9906G>A
NG_016391.2:g.27369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433375.2:c.1180G>A (GLIS2) MANE Select	ENSP00000395547.1:p.Gly394Ser
ENST00000262366.7:c.1180G>A (GLIS2)	ENSP00000262366.3:p.Gly394Ser
ENST00000433375.1:c.1180G>A (GLIS2)	ENSP00000395547.1:p.Gly394Ser
ENST00000577031.5:c.291+3791C>T (PAM16)	ENSP00000459113.1:n.291+3791C>T
NM_032575.2:c.1180G>A (GLIS2)	NP_115964.2:p.Gly394Ser
XM_005255641.3:c.1180G>A (GLIS2)	XP_005255698.1:p.Gly394Ser
XM_005255642.2:c.1180G>A (GLIS2)	XP_005255699.1:p.Gly394Ser
NM_001318918.1:c.1180G>A (GLIS2)	NP_001305847.1:p.Gly394Ser
XM_005255641.4:c.1180G>A (GLIS2)	XP_005255698.1:p.Gly394Ser
NM_032575.3:c.1180G>A (GLIS2) MANE Select	NP_115964.2:p.Gly394Ser
NM_001318918.2:c.1180G>A (GLIS2)	NP_001305847.1:p.Gly394Ser