Canonical Allele Identifier: CA347371950

Gene: MOGS

Linked Data

• MyVariant Identifiers: chr2:g.74689369A>G (hg19) ; chr2:g.74462242A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74462242A>G , CM000664.2:g.74462242A>G	GRCh38
NC_000002.11:g.74689369A>G , CM000664.1:g.74689369A>G	GRCh37
NC_000002.10:g.74542877A>G	NCBI36
NG_008922.1:g.8169T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690565.1:c.1547T>C	ENSP00000510501.1:p.Leu516Pro
ENST00000691308.1:c.829-62T>C	ENSP00000509583.1:n.829-62T>C
ENST00000448666.7:c.1547T>C MANE Select	ENSP00000410992.3:p.Leu516Pro
ENST00000452063.7:c.1229T>C	ENSP00000388201.2:p.Leu410Pro
ENST00000462443.2:c.722T>C	ENSP00000497265.1:p.Leu241Pro
ENST00000647723.1:c.1490T>C
ENST00000647753.1:c.*840T>C	ENSP00000497318.1:n.*840T>C
ENST00000647771.1:c.*1035T>C	ENSP00000496788.1:n.*1035T>C
ENST00000647915.1:c.*840T>C	ENSP00000498123.1:n.*840T>C
ENST00000648768.1:n.1804T>C
ENST00000648810.1:c.722T>C	ENSP00000496949.1:p.Leu241Pro
ENST00000649075.1:c.*475T>C	ENSP00000497836.1:n.*475T>C
ENST00000649601.1:c.*727T>C	ENSP00000496796.1:n.*727T>C
ENST00000649777.1:n.1756T>C
ENST00000649854.1:c.1180T>C
ENST00000233616.8:c.1547T>C	ENSP00000233616.4:p.Leu516Pro
ENST00000409065.5:c.*727T>C	ENSP00000386493.1:n.*727T>C
ENST00000448666.5:c.1229T>C	ENSP00000410992.1:p.Leu410Pro
ENST00000452063.6:c.1229T>C	ENSP00000388201.2:p.Leu410Pro
ENST00000462189.1:n.1228T>C
NM_001146158.1:c.1229T>C	NP_001139630.1:p.Leu410Pro
NM_006302.2:c.1547T>C	NP_006293.2:p.Leu516Pro
NM_006302.3:c.1547T>C MANE Select	NP_006293.2:p.Leu516Pro
NM_001146158.2:c.1229T>C	NP_001139630.1:p.Leu410Pro