Canonical Allele Identifier: CA346207854

Gene: MPV17

Linked Data

• ClinVar Variation Id: 2812985
• ClinVar RCV Id: RCV003677799
• MyVariant Identifiers: chr2:g.27535376C>T (hg19) ; chr2:g.27312509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312509C>T , CM000664.2:g.27312509C>T	GRCh38
NC_000002.11:g.27535376C>T , CM000664.1:g.27535376C>T	GRCh37
NC_000002.10:g.27388880C>T	NCBI36
NG_008075.1:g.15056G>A
NG_033055.1:g.755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.360G>A MANE Select	ENSP00000369383.1:p.Trp120Ter
ENST00000233545.6:c.360G>A	ENSP00000233545.2:p.Trp120Ter
ENST00000357186.10:c.192G>A	ENSP00000349713.6:p.Trp64Ter
ENST00000380044.5:c.360G>A	ENSP00000369383.1:p.Trp120Ter
ENST00000402310.5:c.360G>A	ENSP00000383955.1:p.Trp120Ter
ENST00000402722.5:c.*25G>A	ENSP00000386000.1:n.*25G>A
ENST00000403262.6:c.360G>A	ENSP00000385671.1:p.Trp120Ter
ENST00000405076.5:c.187-263G>A	ENSP00000385175.1:n.187-263G>A
ENST00000405983.5:c.405G>A	ENSP00000384586.1:p.Trp135Ter
ENST00000415514.5:c.*161G>A	ENSP00000388043.1:n.*161G>A
ENST00000426513.6:c.*25G>A	ENSP00000403824.2:n.*25G>A
ENST00000428910.5:c.282G>A	ENSP00000405235.1:p.Trp94Ter
ENST00000430991.5:c.209+171G>A
ENST00000475085.1:n.388G>A
ENST00000616446.1:n.337G>A
ENST00000616707.1:n.879G>A
ENST00000617583.4:n.386G>A
ENST00000621183.4:n.416G>A
ENST00000621470.4:n.376G>A
ENST00000622003.4:n.533G>A
NM_002437.4:c.360G>A	NP_002428.1:p.Trp120Ter
XM_005264326.2:c.360G>A	XP_005264383.1:p.Trp120Ter
XM_005264327.2:c.201G>A	XP_005264384.1:p.Trp67Ter
XM_006712021.2:c.312G>A	XP_006712084.1:p.Trp104Ter
XM_005264326.4:c.360G>A	XP_005264383.1:p.Trp120Ter
XM_006712021.3:c.312G>A	XP_006712084.1:p.Trp104Ter
XM_017004150.1:c.342G>A	XP_016859639.1:p.Trp114Ter
XM_017004151.1:c.312G>A	XP_016859640.1:p.Trp104Ter
XM_017004152.1:c.201G>A	XP_016859641.1:p.Trp67Ter
XM_024452913.1:c.312G>A	XP_024308681.1:p.Trp104Ter
NM_002437.5:c.360G>A MANE Select	NP_002428.1:p.Trp120Ter