Canonical Allele Identifier: CA394594189

Gene: GLIS2 PAM16

Linked Data

• gnomAD v4: 16-4333418-A-G
• MyVariant Identifiers: chr16:g.4383419A>G (hg19) ; chr16:g.4333418A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4333418A>G , CM000678.2:g.4333418A>G	GRCh38
NC_000016.9:g.4383419A>G , CM000678.1:g.4383419A>G	GRCh37
NC_000016.8:g.4323420A>G	NCBI36
NG_016391.1:g.6195A>G
NG_016391.2:g.23658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433375.2:c.244A>G (GLIS2) MANE Select	ENSP00000395547.1:p.Ser82Gly
ENST00000262366.7:c.244A>G (GLIS2)	ENSP00000262366.3:p.Ser82Gly
ENST00000433375.1:c.244A>G (GLIS2)	ENSP00000395547.1:p.Ser82Gly
ENST00000577031.5:c.292-1644T>C (PAM16)	ENSP00000459113.1:n.292-1644T>C
NM_032575.2:c.244A>G (GLIS2)	NP_115964.2:p.Ser82Gly
XM_005255641.3:c.244A>G (GLIS2)	XP_005255698.1:p.Ser82Gly
XM_005255642.2:c.244A>G (GLIS2)	XP_005255699.1:p.Ser82Gly
NM_001318918.1:c.244A>G (GLIS2)	NP_001305847.1:p.Ser82Gly
XM_005255641.4:c.244A>G (GLIS2)	XP_005255698.1:p.Ser82Gly
NM_032575.3:c.244A>G (GLIS2) MANE Select	NP_115964.2:p.Ser82Gly
NM_001318918.2:c.244A>G (GLIS2)	NP_001305847.1:p.Ser82Gly