Canonical Allele Identifier: CA347372405

Gene: MOGS

Linked Data

• gnomAD v4: 2-74462338-A-G
• MyVariant Identifiers: chr2:g.74689465A>G (hg19) ; chr2:g.74462338A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74462338A>G , CM000664.2:g.74462338A>G	GRCh38
NC_000002.11:g.74689465A>G , CM000664.1:g.74689465A>G	GRCh37
NC_000002.10:g.74542973A>G	NCBI36
NG_008922.1:g.8073T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690565.1:c.1451T>C	ENSP00000510501.1:p.Ile484Thr
ENST00000691308.1:c.829-158T>C	ENSP00000509583.1:n.829-158T>C
ENST00000448666.7:c.1451T>C MANE Select	ENSP00000410992.3:p.Ile484Thr
ENST00000452063.7:c.1133T>C	ENSP00000388201.2:p.Ile378Thr
ENST00000462443.2:c.626T>C	ENSP00000497265.1:p.Ile209Thr
ENST00000647723.1:c.1394T>C
ENST00000647753.1:c.*744T>C	ENSP00000497318.1:n.*744T>C
ENST00000647771.1:c.*939T>C	ENSP00000496788.1:n.*939T>C
ENST00000647915.1:c.*744T>C	ENSP00000498123.1:n.*744T>C
ENST00000648768.1:n.1708T>C
ENST00000648810.1:c.626T>C	ENSP00000496949.1:p.Ile209Thr
ENST00000649075.1:c.*379T>C	ENSP00000497836.1:n.*379T>C
ENST00000649601.1:c.*631T>C	ENSP00000496796.1:n.*631T>C
ENST00000649777.1:n.1660T>C
ENST00000649854.1:c.1084T>C
ENST00000650523.1:c.1226T>C	ENSP00000497143.1:p.Ile409Thr
ENST00000233616.8:c.1451T>C	ENSP00000233616.4:p.Ile484Thr
ENST00000409065.5:c.*631T>C	ENSP00000386493.1:n.*631T>C
ENST00000448666.5:c.1133T>C	ENSP00000410992.1:p.Ile378Thr
ENST00000452063.6:c.1133T>C	ENSP00000388201.2:p.Ile378Thr
ENST00000462189.1:n.1132T>C
NM_001146158.1:c.1133T>C	NP_001139630.1:p.Ile378Thr
NM_006302.2:c.1451T>C	NP_006293.2:p.Ile484Thr
NM_006302.3:c.1451T>C MANE Select	NP_006293.2:p.Ile484Thr
NM_001146158.2:c.1133T>C	NP_001139630.1:p.Ile378Thr