Canonical Allele Identifier: CA493296277

Gene: GLIS2 PAM16

Linked Data

• gnomAD v4: 16-4333450-C-A
• MyVariant Identifiers: chr16:g.4383451C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4333450C>A , CM000678.2:g.4333450C>A	GRCh38
NC_000016.9:g.4383451C>A , CM000678.1:g.4383451C>A	GRCh37
NC_000016.8:g.4323452C>A	NCBI36
NG_016391.1:g.6227C>A
NG_016391.2:g.23690C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433375.2:c.276C>A (GLIS2) MANE Select	ENSP00000395547.1:p.Pro92=
ENST00000262366.7:c.276C>A (GLIS2)	ENSP00000262366.3:p.Pro92=
ENST00000433375.1:c.276C>A (GLIS2)	ENSP00000395547.1:p.Pro92=
ENST00000577031.5:c.292-1676G>T (PAM16)	ENSP00000459113.1:n.292-1676G>T
NM_032575.2:c.276C>A (GLIS2)	NP_115964.2:p.Pro92=
XM_005255641.3:c.276C>A (GLIS2)	XP_005255698.1:p.Pro92=
XM_005255642.2:c.276C>A (GLIS2)	XP_005255699.1:p.Pro92=
NM_001318918.1:c.276C>A (GLIS2)	NP_001305847.1:p.Pro92=
XM_005255641.4:c.276C>A (GLIS2)	XP_005255698.1:p.Pro92=
NM_032575.3:c.276C>A (GLIS2) MANE Select	NP_115964.2:p.Pro92=
NM_001318918.2:c.276C>A (GLIS2)	NP_001305847.1:p.Pro92=