Canonical Allele Identifier: CA1724759

Gene: MOGS

Linked Data

• ClinVar Variation Id: 465838
• ClinVar RCV Id: RCV001001880 ; RCV001550095 ; RCV003935454
• dbSNP Id: rs200508287
• ExAC: 2:74689335 G / T
• gnomAD v2: 2-74689335-G-T
• gnomAD v3: 2-74462208-G-T
• gnomAD v4: 2-74462208-G-T
• MyVariant Identifiers: chr2:g.74689335G>T (hg19) ; chr2:g.74462208G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74462208G>T , CM000664.2:g.74462208G>T	GRCh38
NC_000002.11:g.74689335G>T , CM000664.1:g.74689335G>T	GRCh37
NC_000002.10:g.74542843G>T	NCBI36
NG_008922.1:g.8203C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690565.1:c.1581C>A	ENSP00000510501.1:p.Asp527Glu
ENST00000691308.1:c.829-28C>A	ENSP00000509583.1:n.829-28C>A
ENST00000448666.7:c.1581C>A MANE Select	ENSP00000410992.3:p.Asp527Glu
ENST00000452063.7:c.1263C>A	ENSP00000388201.2:p.Asp421Glu
ENST00000462443.2:c.756C>A	ENSP00000497265.1:p.Asp252Glu
ENST00000647723.1:c.1524C>A
ENST00000647753.1:c.*874C>A	ENSP00000497318.1:n.*874C>A
ENST00000647771.1:c.*1069C>A	ENSP00000496788.1:n.*1069C>A
ENST00000647915.1:c.*874C>A	ENSP00000498123.1:n.*874C>A
ENST00000648768.1:n.1838C>A
ENST00000648810.1:c.756C>A	ENSP00000496949.1:p.Asp252Glu
ENST00000649075.1:c.*509C>A	ENSP00000497836.1:n.*509C>A
ENST00000649601.1:c.*761C>A	ENSP00000496796.1:n.*761C>A
ENST00000649777.1:n.1790C>A
ENST00000649854.1:c.1214C>A
ENST00000233616.8:c.1581C>A	ENSP00000233616.4:p.Asp527Glu
ENST00000409065.5:c.*761C>A	ENSP00000386493.1:n.*761C>A
ENST00000448666.5:c.1263C>A	ENSP00000410992.1:p.Asp421Glu
ENST00000452063.6:c.1263C>A	ENSP00000388201.2:p.Asp421Glu
ENST00000462189.1:n.1262C>A
NM_001146158.1:c.1263C>A	NP_001139630.1:p.Asp421Glu
NM_006302.2:c.1581C>A	NP_006293.2:p.Asp527Glu
NM_006302.3:c.1581C>A MANE Select	NP_006293.2:p.Asp527Glu
NM_001146158.2:c.1263C>A	NP_001139630.1:p.Asp421Glu