Canonical Allele Identifier: CA346161188

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27545373C>T (hg19) ; chr2:g.27322506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322506C>T , CM000664.2:g.27322506C>T	GRCh38
NC_000002.11:g.27545373C>T , CM000664.1:g.27545373C>T	GRCh37
NC_000002.10:g.27398877C>T	NCBI36
NG_008075.1:g.5059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.12G>A MANE Select	ENSP00000369383.1:p.Trp4Ter
ENST00000233545.6:c.12G>A	ENSP00000233545.2:p.Trp4Ter
ENST00000357186.10:c.18+1927G>A	ENSP00000349713.6:n.18+1927G>A
ENST00000380044.5:c.12G>A	ENSP00000369383.1:p.Trp4Ter
ENST00000399052.8:c.12G>A	ENSP00000382006.4:p.Trp4Ter
ENST00000402310.5:c.12G>A	ENSP00000383955.1:p.Trp4Ter
ENST00000402722.5:c.12G>A	ENSP00000386000.1:p.Trp4Ter
ENST00000403262.6:c.12G>A	ENSP00000385671.1:p.Trp4Ter
ENST00000405076.5:c.12G>A	ENSP00000385175.1:p.Trp4Ter
ENST00000405983.5:c.12G>A	ENSP00000384586.1:p.Trp4Ter
ENST00000415514.5:c.12G>A	ENSP00000388043.1:p.Trp4Ter
ENST00000426513.6:c.12G>A	ENSP00000403824.2:p.Trp4Ter
ENST00000428910.5:c.-191G>A	ENSP00000405235.1:n.-191G>A
ENST00000486898.1:n.63G>A
ENST00000494436.1:n.43G>A
ENST00000617583.4:n.38G>A
ENST00000621183.4:n.68G>A
ENST00000621470.4:n.63G>A
ENST00000622003.4:n.28G>A
NM_002437.4:c.12G>A	NP_002428.1:p.Trp4Ter
XM_005264326.2:c.12G>A	XP_005264383.1:p.Trp4Ter
XM_005264327.2:c.-113G>A	XP_005264384.1:n.-113G>A
XM_006712021.2:c.-194G>A	XP_006712084.1:n.-194G>A
XM_005264326.4:c.12G>A	XP_005264383.1:p.Trp4Ter
XM_006712021.3:c.-194G>A	XP_006712084.1:n.-194G>A
XM_017004150.1:c.-3241G>A	XP_016859639.1:n.-3241G>A
XM_017004151.1:c.-133G>A	XP_016859640.1:n.-133G>A
XM_017004152.1:c.-270G>A	XP_016859641.1:n.-270G>A
XM_024452913.1:c.-194G>A	XP_024308681.1:n.-194G>A
NM_002437.5:c.12G>A MANE Select	NP_002428.1:p.Trp4Ter