Canonical Allele Identifier: CA347372417

Gene: MOGS

Linked Data

• MyVariant Identifiers: chr2:g.74689467C>A (hg19) ; chr2:g.74462340C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74462340C>A , CM000664.2:g.74462340C>A	GRCh38
NC_000002.11:g.74689467C>A , CM000664.1:g.74689467C>A	GRCh37
NC_000002.10:g.74542975C>A	NCBI36
NG_008922.1:g.8071G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000690565.1:c.1449G>T	ENSP00000510501.1:p.Trp483Cys
ENST00000691308.1:c.829-160G>T	ENSP00000509583.1:n.829-160G>T
ENST00000448666.7:c.1449G>T MANE Select	ENSP00000410992.3:p.Trp483Cys
ENST00000452063.7:c.1131G>T	ENSP00000388201.2:p.Trp377Cys
ENST00000462443.2:c.624G>T	ENSP00000497265.1:p.Trp208Cys
ENST00000647723.1:c.1392G>T
ENST00000647753.1:c.*742G>T	ENSP00000497318.1:n.*742G>T
ENST00000647771.1:c.*937G>T	ENSP00000496788.1:n.*937G>T
ENST00000647915.1:c.*742G>T	ENSP00000498123.1:n.*742G>T
ENST00000648768.1:n.1706G>T
ENST00000648810.1:c.624G>T	ENSP00000496949.1:p.Trp208Cys
ENST00000649075.1:c.*377G>T	ENSP00000497836.1:n.*377G>T
ENST00000649601.1:c.*629G>T	ENSP00000496796.1:n.*629G>T
ENST00000649777.1:n.1658G>T
ENST00000649854.1:c.1082G>T
ENST00000650523.1:c.1224G>T	ENSP00000497143.1:p.Trp408Cys
ENST00000233616.8:c.1449G>T	ENSP00000233616.4:p.Trp483Cys
ENST00000409065.5:c.*629G>T	ENSP00000386493.1:n.*629G>T
ENST00000448666.5:c.1131G>T	ENSP00000410992.1:p.Trp377Cys
ENST00000452063.6:c.1131G>T	ENSP00000388201.2:p.Trp377Cys
ENST00000462189.1:n.1130G>T
NM_001146158.1:c.1131G>T	NP_001139630.1:p.Trp377Cys
NM_006302.2:c.1449G>T	NP_006293.2:p.Trp483Cys
NM_006302.3:c.1449G>T MANE Select	NP_006293.2:p.Trp483Cys
NM_001146158.2:c.1131G>T	NP_001139630.1:p.Trp377Cys