Canonical Allele Identifier: CA1724715

Gene: MOGS

Linked Data

• dbSNP Id: rs748975153
• ExAC: 2:74689115 GCA / G
• gnomAD v2: 2-74689115-GCA-G
• gnomAD v3: 2-74461988-GCA-G
• gnomAD v4: 2-74461988-GCA-G
• MyVariant Identifiers: chr2:g.74689116_74689117del (hg19) ; chr2:g.74461989_74461990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74461989_74461990del , CM000664.2:g.74461989_74461990del	GRCh38
NC_000002.11:g.74689116_74689117del , CM000664.1:g.74689116_74689117del	GRCh37
NC_000002.10:g.74542624_74542625del	NCBI36
NG_008922.1:g.8421_8422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690565.1:c.1799_1800del	ENSP00000510501.1:p.Leu600ProfsTer?
ENST00000691308.1:c.1019_1020del	ENSP00000509583.1:p.Leu340ProfsTer?
ENST00000448666.7:c.1799_1800del MANE Select	ENSP00000410992.3:p.Leu600ProfsTer20
ENST00000452063.7:c.1481_1482del	ENSP00000388201.2:p.Leu494ProfsTer20
ENST00000462443.2:c.974_975del	ENSP00000497265.1:p.Leu325ProfsTer20
ENST00000647723.1:c.1742_1743del
ENST00000647753.1:c.*1092_*1093del	ENSP00000497318.1:n.*1092_*1093del
ENST00000647771.1:c.*1287_*1288del	ENSP00000496788.1:n.*1287_*1288del
ENST00000647915.1:c.*1092_*1093del	ENSP00000498123.1:n.*1092_*1093del
ENST00000648768.1:n.2056_2057del
ENST00000648810.1:c.974_975del	ENSP00000496949.1:p.Leu325ProfsTer20
ENST00000649075.1:c.*727_*728del	ENSP00000497836.1:n.*727_*728del
ENST00000649601.1:c.*979_*980del	ENSP00000496796.1:n.*979_*980del
ENST00000649777.1:n.2008_2009del
ENST00000649854.1:c.1432_1433del
ENST00000233616.8:c.1799_1800del	ENSP00000233616.4:p.Leu600ProfsTer20
ENST00000409065.5:c.*979_*980del	ENSP00000386493.1:n.*979_*980del
ENST00000452063.6:c.1481_1482del	ENSP00000388201.2:p.Leu494ProfsTer20
ENST00000462189.1:n.1480_1481del
NM_001146158.1:c.1481_1482del	NP_001139630.1:p.Leu494ProfsTer20
NM_006302.2:c.1799_1800del	NP_006293.2:p.Leu600ProfsTer20
NM_006302.3:c.1799_1800del MANE Select	NP_006293.2:p.Leu600ProfsTer20
NM_001146158.2:c.1481_1482del	NP_001139630.1:p.Leu494ProfsTer20