Canonical Allele Identifier: CA346209287

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535899G>T (hg19) ; chr2:g.27313032G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313032G>T , CM000664.2:g.27313032G>T	GRCh38
NC_000002.11:g.27535899G>T , CM000664.1:g.27535899G>T	GRCh37
NC_000002.10:g.27389403G>T	NCBI36
NG_008075.1:g.14533C>A
NG_033055.1:g.232C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.148C>A MANE Select	ENSP00000369383.1:p.Arg50=
ENST00000233545.6:c.148C>A	ENSP00000233545.2:p.Arg50=
ENST00000357186.10:c.19-260C>A	ENSP00000349713.6:n.19-260C>A
ENST00000380044.5:c.148C>A	ENSP00000369383.1:p.Arg50=
ENST00000402310.5:c.148C>A	ENSP00000383955.1:p.Arg50=
ENST00000402722.5:c.113C>A	ENSP00000386000.1:p.Pro38Gln
ENST00000403262.6:c.148C>A	ENSP00000385671.1:p.Arg50=
ENST00000405076.5:c.148C>A	ENSP00000385175.1:p.Arg50=
ENST00000405983.5:c.193C>A	ENSP00000384586.1:p.Arg65=
ENST00000415514.5:c.228-260C>A	ENSP00000388043.1:n.228-260C>A
ENST00000426513.6:c.113C>A	ENSP00000403824.2:p.Pro38Gln
ENST00000428910.5:c.70C>A	ENSP00000405235.1:p.Arg24=
ENST00000430991.5:c.78C>A
ENST00000616446.1:n.125C>A
ENST00000616707.1:n.356C>A
ENST00000617583.4:n.174C>A
ENST00000621183.4:n.204C>A
ENST00000621470.4:n.164C>A
ENST00000622003.4:n.321C>A
NM_002437.4:c.148C>A	NP_002428.1:p.Arg50=
XM_005264326.2:c.148C>A	XP_005264383.1:p.Arg50=
XM_005264327.2:c.-12C>A	XP_005264384.1:n.-12C>A
XM_006712021.2:c.100C>A	XP_006712084.1:p.Arg34=
XM_005264326.4:c.148C>A	XP_005264383.1:p.Arg50=
XM_006712021.3:c.100C>A	XP_006712084.1:p.Arg34=
XM_017004150.1:c.130C>A	XP_016859639.1:p.Arg44=
XM_017004151.1:c.100C>A	XP_016859640.1:p.Arg34=
XM_017004152.1:c.-12C>A	XP_016859641.1:n.-12C>A
XM_024452913.1:c.100C>A	XP_024308681.1:p.Arg34=
NM_002437.5:c.148C>A MANE Select	NP_002428.1:p.Arg50=