Canonical Allele Identifier: CA346209363

Gene: MPV17

Linked Data

• ClinVar Variation Id: 1567717
• ClinVar RCV Id: RCV002210176
• dbSNP Id: rs1358533604
• MyVariant Identifiers: chr2:g.27535912T>C (hg19) ; chr2:g.27313045T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313045T>C , CM000664.2:g.27313045T>C	GRCh38
NC_000002.11:g.27535912T>C , CM000664.1:g.27535912T>C	GRCh37
NC_000002.10:g.27389416T>C	NCBI36
NG_008075.1:g.14520A>G
NG_033055.1:g.219A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.135A>G MANE Select	ENSP00000369383.1:p.Glu45=
ENST00000233545.6:c.135A>G	ENSP00000233545.2:p.Glu45=
ENST00000357186.10:c.19-273A>G	ENSP00000349713.6:n.19-273A>G
ENST00000380044.5:c.135A>G	ENSP00000369383.1:p.Glu45=
ENST00000402310.5:c.135A>G	ENSP00000383955.1:p.Glu45=
ENST00000402722.5:c.100A>G	ENSP00000386000.1:p.Thr34Ala
ENST00000403262.6:c.135A>G	ENSP00000385671.1:p.Glu45=
ENST00000405076.5:c.135A>G	ENSP00000385175.1:p.Glu45=
ENST00000405983.5:c.180A>G	ENSP00000384586.1:p.Glu60=
ENST00000415514.5:c.228-273A>G	ENSP00000388043.1:n.228-273A>G
ENST00000426513.6:c.100A>G	ENSP00000403824.2:p.Thr34Ala
ENST00000428910.5:c.57A>G	ENSP00000405235.1:p.Glu19=
ENST00000430991.5:c.65A>G
ENST00000616446.1:n.112A>G
ENST00000616707.1:n.343A>G
ENST00000617583.4:n.161A>G
ENST00000621183.4:n.191A>G
ENST00000621470.4:n.151A>G
ENST00000622003.4:n.308A>G
NM_002437.4:c.135A>G	NP_002428.1:p.Glu45=
XM_005264326.2:c.135A>G	XP_005264383.1:p.Glu45=
XM_005264327.2:c.-25A>G	XP_005264384.1:n.-25A>G
XM_006712021.2:c.87A>G	XP_006712084.1:p.Glu29=
XM_005264326.4:c.135A>G	XP_005264383.1:p.Glu45=
XM_006712021.3:c.87A>G	XP_006712084.1:p.Glu29=
XM_017004150.1:c.117A>G	XP_016859639.1:p.Glu39=
XM_017004151.1:c.87A>G	XP_016859640.1:p.Glu29=
XM_017004152.1:c.-25A>G	XP_016859641.1:n.-25A>G
XM_024452913.1:c.87A>G	XP_024308681.1:p.Glu29=
NM_002437.5:c.135A>G MANE Select	NP_002428.1:p.Glu45=