Canonical Allele Identifier: CA347371040

Gene: MOGS

Linked Data

• MyVariant Identifiers: chr2:g.74689169C>G (hg19) ; chr2:g.74462042C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74462042C>G , CM000664.2:g.74462042C>G	GRCh38
NC_000002.11:g.74689169C>G , CM000664.1:g.74689169C>G	GRCh37
NC_000002.10:g.74542677C>G	NCBI36
NG_008922.1:g.8369G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690565.1:c.1747G>C	ENSP00000510501.1:p.Asp583His
ENST00000691308.1:c.967G>C	ENSP00000509583.1:p.Asp323His
ENST00000448666.7:c.1747G>C MANE Select	ENSP00000410992.3:p.Asp583His
ENST00000452063.7:c.1429G>C	ENSP00000388201.2:p.Asp477His
ENST00000462443.2:c.922G>C	ENSP00000497265.1:p.Asp308His
ENST00000647723.1:c.1690G>C
ENST00000647753.1:c.*1040G>C	ENSP00000497318.1:n.*1040G>C
ENST00000647771.1:c.*1235G>C	ENSP00000496788.1:n.*1235G>C
ENST00000647915.1:c.*1040G>C	ENSP00000498123.1:n.*1040G>C
ENST00000648768.1:n.2004G>C
ENST00000648810.1:c.922G>C	ENSP00000496949.1:p.Asp308His
ENST00000649075.1:c.*675G>C	ENSP00000497836.1:n.*675G>C
ENST00000649601.1:c.*927G>C	ENSP00000496796.1:n.*927G>C
ENST00000649777.1:n.1956G>C
ENST00000649854.1:c.1380G>C
ENST00000233616.8:c.1747G>C	ENSP00000233616.4:p.Asp583His
ENST00000409065.5:c.*927G>C	ENSP00000386493.1:n.*927G>C
ENST00000448666.5:c.1429G>C	ENSP00000410992.1:p.Asp477His
ENST00000452063.6:c.1429G>C	ENSP00000388201.2:p.Asp477His
ENST00000462189.1:n.1428G>C
NM_001146158.1:c.1429G>C	NP_001139630.1:p.Asp477His
NM_006302.2:c.1747G>C	NP_006293.2:p.Asp583His
NM_006302.3:c.1747G>C MANE Select	NP_006293.2:p.Asp583His
NM_001146158.2:c.1429G>C	NP_001139630.1:p.Asp477His