Canonical Allele Identifier: CA346208352

Gene: MPV17

Linked Data

• ClinVar Variation Id: 2733180
• ClinVar RCV Id: RCV003562022
• dbSNP Id: rs1268150656
• gnomAD v3: 2-27312587-C-T
• gnomAD v4: 2-27312587-C-T
• MyVariant Identifiers: chr2:g.27535454C>T (hg19) ; chr2:g.27312587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312587C>T , CM000664.2:g.27312587C>T	GRCh38
NC_000002.11:g.27535454C>T , CM000664.1:g.27535454C>T	GRCh37
NC_000002.10:g.27388958C>T	NCBI36
NG_008075.1:g.14978G>A
NG_033055.1:g.677G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.282G>A MANE Select	ENSP00000369383.1:p.Gly94=
ENST00000233545.6:c.282G>A	ENSP00000233545.2:p.Gly94=
ENST00000357186.10:c.114G>A	ENSP00000349713.6:p.Gly38=
ENST00000380044.5:c.282G>A	ENSP00000369383.1:p.Gly94=
ENST00000402310.5:c.282G>A	ENSP00000383955.1:p.Gly94=
ENST00000402722.5:c.247G>A	ENSP00000386000.1:p.Gly83Arg
ENST00000403262.6:c.282G>A	ENSP00000385671.1:p.Gly94=
ENST00000405076.5:c.187-341G>A	ENSP00000385175.1:n.187-341G>A
ENST00000405983.5:c.327G>A	ENSP00000384586.1:p.Gly109=
ENST00000415514.5:c.*83G>A	ENSP00000388043.1:n.*83G>A
ENST00000426513.6:c.247G>A	ENSP00000403824.2:p.Gly83Arg
ENST00000428910.5:c.204G>A	ENSP00000405235.1:p.Gly68=
ENST00000430991.5:c.209+93G>A
ENST00000475085.1:n.310G>A
ENST00000616446.1:n.259G>A
ENST00000616707.1:n.801G>A
ENST00000617583.4:n.308G>A
ENST00000621183.4:n.338G>A
ENST00000621470.4:n.298G>A
ENST00000622003.4:n.455G>A
NM_002437.4:c.282G>A	NP_002428.1:p.Gly94=
XM_005264326.2:c.282G>A	XP_005264383.1:p.Gly94=
XM_005264327.2:c.123G>A	XP_005264384.1:p.Gly41=
XM_006712021.2:c.234G>A	XP_006712084.1:p.Gly78=
XM_005264326.4:c.282G>A	XP_005264383.1:p.Gly94=
XM_006712021.3:c.234G>A	XP_006712084.1:p.Gly78=
XM_017004150.1:c.264G>A	XP_016859639.1:p.Gly88=
XM_017004151.1:c.234G>A	XP_016859640.1:p.Gly78=
XM_017004152.1:c.123G>A	XP_016859641.1:p.Gly41=
XM_024452913.1:c.234G>A	XP_024308681.1:p.Gly78=
NM_002437.5:c.282G>A MANE Select	NP_002428.1:p.Gly94=