Canonical Allele Identifier: CA493296163

Gene: GLIS2 PAM16

Linked Data

• dbSNP Id: rs1354611266
• gnomAD v2: 16-4383424-G-C
• gnomAD v4: 16-4333423-G-C
• MyVariant Identifiers: chr16:g.4383424G>C (hg19) ; chr16:g.4333423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4333423G>C , CM000678.2:g.4333423G>C	GRCh38
NC_000016.9:g.4383424G>C , CM000678.1:g.4383424G>C	GRCh37
NC_000016.8:g.4323425G>C	NCBI36
NG_016391.1:g.6200G>C
NG_016391.2:g.23663G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433375.2:c.249G>C (GLIS2) MANE Select	ENSP00000395547.1:p.Leu83=
ENST00000262366.7:c.249G>C (GLIS2)	ENSP00000262366.3:p.Leu83=
ENST00000433375.1:c.249G>C (GLIS2)	ENSP00000395547.1:p.Leu83=
ENST00000577031.5:c.292-1649C>G (PAM16)	ENSP00000459113.1:n.292-1649C>G
NM_032575.2:c.249G>C (GLIS2)	NP_115964.2:p.Leu83=
XM_005255641.3:c.249G>C (GLIS2)	XP_005255698.1:p.Leu83=
XM_005255642.2:c.249G>C (GLIS2)	XP_005255699.1:p.Leu83=
NM_001318918.1:c.249G>C (GLIS2)	NP_001305847.1:p.Leu83=
XM_005255641.4:c.249G>C (GLIS2)	XP_005255698.1:p.Leu83=
NM_032575.3:c.249G>C (GLIS2) MANE Select	NP_115964.2:p.Leu83=
NM_001318918.2:c.249G>C (GLIS2)	NP_001305847.1:p.Leu83=