Canonical Allele Identifier: CA16617525

Gene: MPV17

Linked Data

• ClinVar Variation Id: 418309
• ClinVar RCV Id: RCV000480121 ; RCV000761497
• dbSNP Id: rs1064793178
• MyVariant Identifiers: chr2:g.27535361C>T (hg19) ; chr2:g.27312494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312494C>T , CM000664.2:g.27312494C>T	GRCh38
NC_000002.11:g.27535361C>T , CM000664.1:g.27535361C>T	GRCh37
NC_000002.10:g.27388865C>T	NCBI36
NG_008075.1:g.15071G>A
NG_033055.1:g.770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.375G>A MANE Select	ENSP00000369383.1:p.Arg125=
ENST00000233545.6:c.375G>A	ENSP00000233545.2:p.Arg125=
ENST00000357186.10:c.207G>A	ENSP00000349713.6:p.Arg69=
ENST00000380044.5:c.375G>A	ENSP00000369383.1:p.Arg125=
ENST00000402310.5:c.375G>A	ENSP00000383955.1:p.Arg125=
ENST00000402722.5:c.*40G>A	ENSP00000386000.1:n.*40G>A
ENST00000403262.6:c.375G>A	ENSP00000385671.1:p.Arg125=
ENST00000405076.5:c.187-248G>A	ENSP00000385175.1:n.187-248G>A
ENST00000405983.5:c.420G>A	ENSP00000384586.1:p.Arg140=
ENST00000415514.5:c.*176G>A	ENSP00000388043.1:n.*176G>A
ENST00000426513.6:c.*40G>A	ENSP00000403824.2:n.*40G>A
ENST00000428910.5:c.297G>A	ENSP00000405235.1:p.Arg99=
ENST00000430991.5:c.209+186G>A
ENST00000475085.1:n.403G>A
ENST00000616446.1:n.352G>A
ENST00000616707.1:n.894G>A
ENST00000617583.4:n.401G>A
ENST00000621183.4:n.431G>A
ENST00000621470.4:n.391G>A
ENST00000622003.4:n.548G>A
NM_002437.4:c.375G>A	NP_002428.1:p.Arg125=
XM_005264326.2:c.375G>A	XP_005264383.1:p.Arg125=
XM_005264327.2:c.216G>A	XP_005264384.1:p.Arg72=
XM_006712021.2:c.327G>A	XP_006712084.1:p.Arg109=
XM_005264326.4:c.375G>A	XP_005264383.1:p.Arg125=
XM_006712021.3:c.327G>A	XP_006712084.1:p.Arg109=
XM_017004150.1:c.357G>A	XP_016859639.1:p.Arg119=
XM_017004151.1:c.327G>A	XP_016859640.1:p.Arg109=
XM_017004152.1:c.216G>A	XP_016859641.1:p.Arg72=
XM_024452913.1:c.327G>A	XP_024308681.1:p.Arg109=
NM_002437.5:c.375G>A MANE Select	NP_002428.1:p.Arg125=