Canonical Allele Identifier: CA394594212

Gene: GLIS2 PAM16

Linked Data

• gnomAD v4: 16-4333428-C-T
• MyVariant Identifiers: chr16:g.4383429C>T (hg19) ; chr16:g.4333428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4333428C>T , CM000678.2:g.4333428C>T	GRCh38
NC_000016.9:g.4383429C>T , CM000678.1:g.4383429C>T	GRCh37
NC_000016.8:g.4323430C>T	NCBI36
NG_016391.1:g.6205C>T
NG_016391.2:g.23668C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433375.2:c.254C>T (GLIS2) MANE Select	ENSP00000395547.1:p.Pro85Leu
ENST00000262366.7:c.254C>T (GLIS2)	ENSP00000262366.3:p.Pro85Leu
ENST00000433375.1:c.254C>T (GLIS2)	ENSP00000395547.1:p.Pro85Leu
ENST00000577031.5:c.292-1654G>A (PAM16)	ENSP00000459113.1:n.292-1654G>A
NM_032575.2:c.254C>T (GLIS2)	NP_115964.2:p.Pro85Leu
XM_005255641.3:c.254C>T (GLIS2)	XP_005255698.1:p.Pro85Leu
XM_005255642.2:c.254C>T (GLIS2)	XP_005255699.1:p.Pro85Leu
NM_001318918.1:c.254C>T (GLIS2)	NP_001305847.1:p.Pro85Leu
XM_005255641.4:c.254C>T (GLIS2)	XP_005255698.1:p.Pro85Leu
NM_032575.3:c.254C>T (GLIS2) MANE Select	NP_115964.2:p.Pro85Leu
NM_001318918.2:c.254C>T (GLIS2)	NP_001305847.1:p.Pro85Leu