Canonical Allele Identifier: CA347371922

Gene: MOGS

Linked Data

• gnomAD v4: 2-74462236-G-T
• MyVariant Identifiers: chr2:g.74689363G>T (hg19) ; chr2:g.74462236G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74462236G>T , CM000664.2:g.74462236G>T	GRCh38
NC_000002.11:g.74689363G>T , CM000664.1:g.74689363G>T	GRCh37
NC_000002.10:g.74542871G>T	NCBI36
NG_008922.1:g.8175C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690565.1:c.1553C>A	ENSP00000510501.1:p.Pro518His
ENST00000691308.1:c.829-56C>A	ENSP00000509583.1:n.829-56C>A
ENST00000448666.7:c.1553C>A MANE Select	ENSP00000410992.3:p.Pro518His
ENST00000452063.7:c.1235C>A	ENSP00000388201.2:p.Pro412His
ENST00000462443.2:c.728C>A	ENSP00000497265.1:p.Pro243His
ENST00000647723.1:c.1496C>A
ENST00000647753.1:c.*846C>A	ENSP00000497318.1:n.*846C>A
ENST00000647771.1:c.*1041C>A	ENSP00000496788.1:n.*1041C>A
ENST00000647915.1:c.*846C>A	ENSP00000498123.1:n.*846C>A
ENST00000648768.1:n.1810C>A
ENST00000648810.1:c.728C>A	ENSP00000496949.1:p.Pro243His
ENST00000649075.1:c.*481C>A	ENSP00000497836.1:n.*481C>A
ENST00000649601.1:c.*733C>A	ENSP00000496796.1:n.*733C>A
ENST00000649777.1:n.1762C>A
ENST00000649854.1:c.1186C>A
ENST00000233616.8:c.1553C>A	ENSP00000233616.4:p.Pro518His
ENST00000409065.5:c.*733C>A	ENSP00000386493.1:n.*733C>A
ENST00000448666.5:c.1235C>A	ENSP00000410992.1:p.Pro412His
ENST00000452063.6:c.1235C>A	ENSP00000388201.2:p.Pro412His
ENST00000462189.1:n.1234C>A
NM_001146158.1:c.1235C>A	NP_001139630.1:p.Pro412His
NM_006302.2:c.1553C>A	NP_006293.2:p.Pro518His
NM_006302.3:c.1553C>A MANE Select	NP_006293.2:p.Pro518His
NM_001146158.2:c.1235C>A	NP_001139630.1:p.Pro412His