Canonical Allele Identifier: CA427034045

Gene: MOGS

Linked Data

• MyVariant Identifiers: chr2:g.74689368A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74462241A>G , CM000664.2:g.74462241A>G	GRCh38
NC_000002.11:g.74689368A>G , CM000664.1:g.74689368A>G	GRCh37
NC_000002.10:g.74542876A>G	NCBI36
NG_008922.1:g.8170T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000690565.1:c.1548T>C	ENSP00000510501.1:p.Leu516=
ENST00000691308.1:c.829-61T>C	ENSP00000509583.1:n.829-61T>C
ENST00000448666.7:c.1548T>C MANE Select	ENSP00000410992.3:p.Leu516=
ENST00000452063.7:c.1230T>C	ENSP00000388201.2:p.Leu410=
ENST00000462443.2:c.723T>C	ENSP00000497265.1:p.Leu241=
ENST00000647723.1:c.1491T>C
ENST00000647753.1:c.*841T>C	ENSP00000497318.1:n.*841T>C
ENST00000647771.1:c.*1036T>C	ENSP00000496788.1:n.*1036T>C
ENST00000647915.1:c.*841T>C	ENSP00000498123.1:n.*841T>C
ENST00000648768.1:n.1805T>C
ENST00000648810.1:c.723T>C	ENSP00000496949.1:p.Leu241=
ENST00000649075.1:c.*476T>C	ENSP00000497836.1:n.*476T>C
ENST00000649601.1:c.*728T>C	ENSP00000496796.1:n.*728T>C
ENST00000649777.1:n.1757T>C
ENST00000649854.1:c.1181T>C
ENST00000233616.8:c.1548T>C	ENSP00000233616.4:p.Leu516=
ENST00000409065.5:c.*728T>C	ENSP00000386493.1:n.*728T>C
ENST00000448666.5:c.1230T>C	ENSP00000410992.1:p.Leu410=
ENST00000452063.6:c.1230T>C	ENSP00000388201.2:p.Leu410=
ENST00000462189.1:n.1229T>C
NM_001146158.1:c.1230T>C	NP_001139630.1:p.Leu410=
NM_006302.2:c.1548T>C	NP_006293.2:p.Leu516=
NM_006302.3:c.1548T>C MANE Select	NP_006293.2:p.Leu516=
NM_001146158.2:c.1230T>C	NP_001139630.1:p.Leu410=