Canonical Allele Identifier: CA427034043

Gene: MOGS

Linked Data

• MyVariant Identifiers: chr2:g.74689367A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74462240A>G , CM000664.2:g.74462240A>G	GRCh38
NC_000002.11:g.74689367A>G , CM000664.1:g.74689367A>G	GRCh37
NC_000002.10:g.74542875A>G	NCBI36
NG_008922.1:g.8171T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000690565.1:c.1549T>C	ENSP00000510501.1:p.Leu517=
ENST00000691308.1:c.829-60T>C	ENSP00000509583.1:n.829-60T>C
ENST00000448666.7:c.1549T>C MANE Select	ENSP00000410992.3:p.Leu517=
ENST00000452063.7:c.1231T>C	ENSP00000388201.2:p.Leu411=
ENST00000462443.2:c.724T>C	ENSP00000497265.1:p.Leu242=
ENST00000647723.1:c.1492T>C
ENST00000647753.1:c.*842T>C	ENSP00000497318.1:n.*842T>C
ENST00000647771.1:c.*1037T>C	ENSP00000496788.1:n.*1037T>C
ENST00000647915.1:c.*842T>C	ENSP00000498123.1:n.*842T>C
ENST00000648768.1:n.1806T>C
ENST00000648810.1:c.724T>C	ENSP00000496949.1:p.Leu242=
ENST00000649075.1:c.*477T>C	ENSP00000497836.1:n.*477T>C
ENST00000649601.1:c.*729T>C	ENSP00000496796.1:n.*729T>C
ENST00000649777.1:n.1758T>C
ENST00000649854.1:c.1182T>C
ENST00000233616.8:c.1549T>C	ENSP00000233616.4:p.Leu517=
ENST00000409065.5:c.*729T>C	ENSP00000386493.1:n.*729T>C
ENST00000448666.5:c.1231T>C	ENSP00000410992.1:p.Leu411=
ENST00000452063.6:c.1231T>C	ENSP00000388201.2:p.Leu411=
ENST00000462189.1:n.1230T>C
NM_001146158.1:c.1231T>C	NP_001139630.1:p.Leu411=
NM_006302.2:c.1549T>C	NP_006293.2:p.Leu517=
NM_006302.3:c.1549T>C MANE Select	NP_006293.2:p.Leu517=
NM_001146158.2:c.1231T>C	NP_001139630.1:p.Leu411=