Canonical Allele Identifier: CA346208547

Gene: MPV17

Linked Data

• ClinVar Variation Id: 1114994
• ClinVar RCV Id: RCV001442874
• dbSNP Id: rs2148215841
• gnomAD v4: 2-27312698-C-T
• MyVariant Identifiers: chr2:g.27535565C>T (hg19) ; chr2:g.27312698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312698C>T , CM000664.2:g.27312698C>T	GRCh38
NC_000002.11:g.27535565C>T , CM000664.1:g.27535565C>T	GRCh37
NC_000002.10:g.27389069C>T	NCBI36
NG_008075.1:g.14867G>A
NG_033055.1:g.566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.261G>A MANE Select	ENSP00000369383.1:p.Lys87=
ENST00000233545.6:c.261G>A	ENSP00000233545.2:p.Lys87=
ENST00000357186.10:c.93G>A	ENSP00000349713.6:p.Lys31=
ENST00000380044.5:c.261G>A	ENSP00000369383.1:p.Lys87=
ENST00000402310.5:c.261G>A	ENSP00000383955.1:p.Lys87=
ENST00000402722.5:c.226G>A	ENSP00000386000.1:p.Glu76Lys
ENST00000403262.6:c.261G>A	ENSP00000385671.1:p.Lys87=
ENST00000405076.5:c.186+296G>A	ENSP00000385175.1:n.186+296G>A
ENST00000405983.5:c.306G>A	ENSP00000384586.1:p.Lys102=
ENST00000415514.5:c.*62G>A	ENSP00000388043.1:n.*62G>A
ENST00000426513.6:c.226G>A	ENSP00000403824.2:p.Glu76Lys
ENST00000428910.5:c.183G>A	ENSP00000405235.1:p.Lys61=
ENST00000430991.5:c.191G>A
ENST00000475085.1:n.289G>A
ENST00000616446.1:n.238G>A
ENST00000616707.1:n.690G>A
ENST00000617583.4:n.287G>A
ENST00000621183.4:n.317G>A
ENST00000621470.4:n.277G>A
ENST00000622003.4:n.434G>A
NM_002437.4:c.261G>A	NP_002428.1:p.Lys87=
XM_005264326.2:c.261G>A	XP_005264383.1:p.Lys87=
XM_005264327.2:c.102G>A	XP_005264384.1:p.Lys34=
XM_006712021.2:c.213G>A	XP_006712084.1:p.Lys71=
XM_005264326.4:c.261G>A	XP_005264383.1:p.Lys87=
XM_006712021.3:c.213G>A	XP_006712084.1:p.Lys71=
XM_017004150.1:c.243G>A	XP_016859639.1:p.Lys81=
XM_017004151.1:c.213G>A	XP_016859640.1:p.Lys71=
XM_017004152.1:c.102G>A	XP_016859641.1:p.Lys34=
XM_024452913.1:c.213G>A	XP_024308681.1:p.Lys71=
NM_002437.5:c.261G>A MANE Select	NP_002428.1:p.Lys87=