Canonical Allele Identifier: CA347371952

Gene: MOGS

Linked Data

• MyVariant Identifiers: chr2:g.74689370G>A (hg19) ; chr2:g.74462243G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74462243G>A , CM000664.2:g.74462243G>A	GRCh38
NC_000002.11:g.74689370G>A , CM000664.1:g.74689370G>A	GRCh37
NC_000002.10:g.74542878G>A	NCBI36
NG_008922.1:g.8168C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690565.1:c.1546C>T	ENSP00000510501.1:p.Leu516Phe
ENST00000691308.1:c.829-63C>T	ENSP00000509583.1:n.829-63C>T
ENST00000448666.7:c.1546C>T MANE Select	ENSP00000410992.3:p.Leu516Phe
ENST00000452063.7:c.1228C>T	ENSP00000388201.2:p.Leu410Phe
ENST00000462443.2:c.721C>T	ENSP00000497265.1:p.Leu241Phe
ENST00000647723.1:c.1489C>T
ENST00000647753.1:c.*839C>T	ENSP00000497318.1:n.*839C>T
ENST00000647771.1:c.*1034C>T	ENSP00000496788.1:n.*1034C>T
ENST00000647915.1:c.*839C>T	ENSP00000498123.1:n.*839C>T
ENST00000648768.1:n.1803C>T
ENST00000648810.1:c.721C>T	ENSP00000496949.1:p.Leu241Phe
ENST00000649075.1:c.*474C>T	ENSP00000497836.1:n.*474C>T
ENST00000649601.1:c.*726C>T	ENSP00000496796.1:n.*726C>T
ENST00000649777.1:n.1755C>T
ENST00000649854.1:c.1179C>T
ENST00000233616.8:c.1546C>T	ENSP00000233616.4:p.Leu516Phe
ENST00000409065.5:c.*726C>T	ENSP00000386493.1:n.*726C>T
ENST00000448666.5:c.1228C>T	ENSP00000410992.1:p.Leu410Phe
ENST00000452063.6:c.1228C>T	ENSP00000388201.2:p.Leu410Phe
ENST00000462189.1:n.1227C>T
NM_001146158.1:c.1228C>T	NP_001139630.1:p.Leu410Phe
NM_006302.2:c.1546C>T	NP_006293.2:p.Leu516Phe
NM_006302.3:c.1546C>T MANE Select	NP_006293.2:p.Leu516Phe
NM_001146158.2:c.1228C>T	NP_001139630.1:p.Leu410Phe