Canonical Allele Identifier: CA346209428

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535930C>T (hg19) ; chr2:g.27313063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313063C>T , CM000664.2:g.27313063C>T	GRCh38
NC_000002.11:g.27535930C>T , CM000664.1:g.27535930C>T	GRCh37
NC_000002.10:g.27389434C>T	NCBI36
NG_008075.1:g.14502G>A
NG_033055.1:g.201G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.117G>A MANE Select	ENSP00000369383.1:p.Glu39=
ENST00000233545.6:c.117G>A	ENSP00000233545.2:p.Glu39=
ENST00000357186.10:c.19-291G>A	ENSP00000349713.6:n.19-291G>A
ENST00000380044.5:c.117G>A	ENSP00000369383.1:p.Glu39=
ENST00000402310.5:c.117G>A	ENSP00000383955.1:p.Glu39=
ENST00000402722.5:c.82G>A	ENSP00000386000.1:p.Glu28Lys
ENST00000403262.6:c.117G>A	ENSP00000385671.1:p.Glu39=
ENST00000405076.5:c.117G>A	ENSP00000385175.1:p.Glu39=
ENST00000405983.5:c.162G>A	ENSP00000384586.1:p.Glu54=
ENST00000415514.5:c.228-291G>A	ENSP00000388043.1:n.228-291G>A
ENST00000426513.6:c.82G>A	ENSP00000403824.2:p.Glu28Lys
ENST00000428910.5:c.39G>A	ENSP00000405235.1:p.Glu13=
ENST00000430991.5:c.47G>A
ENST00000616446.1:n.94G>A
ENST00000616707.1:n.325G>A
ENST00000617583.4:n.143G>A
ENST00000621183.4:n.173G>A
ENST00000621470.4:n.133G>A
ENST00000622003.4:n.290G>A
NM_002437.4:c.117G>A	NP_002428.1:p.Glu39=
XM_005264326.2:c.117G>A	XP_005264383.1:p.Glu39=
XM_005264327.2:c.-43G>A	XP_005264384.1:n.-43G>A
XM_006712021.2:c.69G>A	XP_006712084.1:p.Glu23=
XM_005264326.4:c.117G>A	XP_005264383.1:p.Glu39=
XM_006712021.3:c.69G>A	XP_006712084.1:p.Glu23=
XM_017004150.1:c.99G>A	XP_016859639.1:p.Glu33=
XM_017004151.1:c.69G>A	XP_016859640.1:p.Glu23=
XM_017004152.1:c.-43G>A	XP_016859641.1:n.-43G>A
XM_024452913.1:c.69G>A	XP_024308681.1:p.Glu23=
NM_002437.5:c.117G>A MANE Select	NP_002428.1:p.Glu39=