Canonical Allele Identifier: CA347370594

Gene: MOGS

Linked Data

• MyVariant Identifiers: chr2:g.74689117A>G (hg19) ; chr2:g.74461990A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74461990A>G , CM000664.2:g.74461990A>G	GRCh38
NC_000002.11:g.74689117A>G , CM000664.1:g.74689117A>G	GRCh37
NC_000002.10:g.74542625A>G	NCBI36
NG_008922.1:g.8421T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690565.1:c.1799T>C	ENSP00000510501.1:p.Leu600Pro
ENST00000691308.1:c.1019T>C	ENSP00000509583.1:p.Leu340Pro
ENST00000448666.7:c.1799T>C MANE Select	ENSP00000410992.3:p.Leu600Pro
ENST00000452063.7:c.1481T>C	ENSP00000388201.2:p.Leu494Pro
ENST00000462443.2:c.974T>C	ENSP00000497265.1:p.Leu325Pro
ENST00000647723.1:c.1742T>C
ENST00000647753.1:c.*1092T>C	ENSP00000497318.1:n.*1092T>C
ENST00000647771.1:c.*1287T>C	ENSP00000496788.1:n.*1287T>C
ENST00000647915.1:c.*1092T>C	ENSP00000498123.1:n.*1092T>C
ENST00000648768.1:n.2056T>C
ENST00000648810.1:c.974T>C	ENSP00000496949.1:p.Leu325Pro
ENST00000649075.1:c.*727T>C	ENSP00000497836.1:n.*727T>C
ENST00000649601.1:c.*979T>C	ENSP00000496796.1:n.*979T>C
ENST00000649777.1:n.2008T>C
ENST00000649854.1:c.1432T>C
ENST00000233616.8:c.1799T>C	ENSP00000233616.4:p.Leu600Pro
ENST00000409065.5:c.*979T>C	ENSP00000386493.1:n.*979T>C
ENST00000452063.6:c.1481T>C	ENSP00000388201.2:p.Leu494Pro
ENST00000462189.1:n.1480T>C
NM_001146158.1:c.1481T>C	NP_001139630.1:p.Leu494Pro
NM_006302.2:c.1799T>C	NP_006293.2:p.Leu600Pro
NM_006302.3:c.1799T>C MANE Select	NP_006293.2:p.Leu600Pro
NM_001146158.2:c.1481T>C	NP_001139630.1:p.Leu494Pro