Canonical Allele Identifier: CA2694607219

Gene: GLUD2

Linked Data

• gnomAD v4: X-121048439-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.121048440del , CM000685.2:g.121048440del	GRCh38
NC_000023.10:g.120182294del , CM000685.1:g.120182294del	GRCh37
NC_000023.9:g.120009975del	NCBI36
NG_016456.1:g.5833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328078.3:c.756del MANE Select	ENSP00000327589.1:p.His252GlnfsTer?
ENST00000328078.2:c.756del	ENSP00000327589.1:p.His252GlnfsTer?
NM_012084.3:c.756del	NP_036216.2:p.His252GlnfsTer?
NM_012084.4:c.756del MANE Select	NP_036216.2:p.His252GlnfsTer?