Canonical Allele Identifier: CA1724786

Gene: MOGS

Linked Data

• dbSNP Id: rs530271596
• ExAC: 2:74689468 C / T
• gnomAD v2: 2-74689468-C-T
• gnomAD v3: 2-74462341-C-T
• gnomAD v4: 2-74462341-C-T
• MyVariant Identifiers: chr2:g.74689468C>T (hg19) ; chr2:g.74462341C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74462341C>T , CM000664.2:g.74462341C>T	GRCh38
NC_000002.11:g.74689468C>T , CM000664.1:g.74689468C>T	GRCh37
NC_000002.10:g.74542976C>T	NCBI36
NG_008922.1:g.8070G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000690565.1:c.1448G>A	ENSP00000510501.1:p.Trp483Ter
ENST00000691308.1:c.829-161G>A	ENSP00000509583.1:n.829-161G>A
ENST00000448666.7:c.1448G>A MANE Select	ENSP00000410992.3:p.Trp483Ter
ENST00000452063.7:c.1130G>A	ENSP00000388201.2:p.Trp377Ter
ENST00000462443.2:c.623G>A	ENSP00000497265.1:p.Trp208Ter
ENST00000647723.1:c.1391G>A
ENST00000647753.1:c.*741G>A	ENSP00000497318.1:n.*741G>A
ENST00000647771.1:c.*936G>A	ENSP00000496788.1:n.*936G>A
ENST00000647915.1:c.*741G>A	ENSP00000498123.1:n.*741G>A
ENST00000648768.1:n.1705G>A
ENST00000648810.1:c.623G>A	ENSP00000496949.1:p.Trp208Ter
ENST00000649075.1:c.*376G>A	ENSP00000497836.1:n.*376G>A
ENST00000649601.1:c.*628G>A	ENSP00000496796.1:n.*628G>A
ENST00000649777.1:n.1657G>A
ENST00000649854.1:c.1081G>A
ENST00000650523.1:c.1223G>A	ENSP00000497143.1:p.Trp408Ter
ENST00000233616.8:c.1448G>A	ENSP00000233616.4:p.Trp483Ter
ENST00000409065.5:c.*628G>A	ENSP00000386493.1:n.*628G>A
ENST00000448666.5:c.1130G>A	ENSP00000410992.1:p.Trp377Ter
ENST00000452063.6:c.1130G>A	ENSP00000388201.2:p.Trp377Ter
ENST00000462189.1:n.1129G>A
NM_001146158.1:c.1130G>A	NP_001139630.1:p.Trp377Ter
NM_006302.2:c.1448G>A	NP_006293.2:p.Trp483Ter
NM_006302.3:c.1448G>A MANE Select	NP_006293.2:p.Trp483Ter
NM_001146158.2:c.1130G>A	NP_001139630.1:p.Trp377Ter