Canonical Allele Identifier: CA346209488

Gene: MPV17

Linked Data

• gnomAD v4: 2-27313087-G-T
• MyVariant Identifiers: chr2:g.27535954G>T (hg19) ; chr2:g.27313087G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313087G>T , CM000664.2:g.27313087G>T	GRCh38
NC_000002.11:g.27535954G>T , CM000664.1:g.27535954G>T	GRCh37
NC_000002.10:g.27389458G>T	NCBI36
NG_008075.1:g.14478C>A
NG_033055.1:g.177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.93C>A MANE Select	ENSP00000369383.1:p.Asp31Glu
ENST00000233545.6:c.93C>A	ENSP00000233545.2:p.Asp31Glu
ENST00000357186.10:c.19-315C>A	ENSP00000349713.6:n.19-315C>A
ENST00000380044.5:c.93C>A	ENSP00000369383.1:p.Asp31Glu
ENST00000402310.5:c.93C>A	ENSP00000383955.1:p.Asp31Glu
ENST00000402722.5:c.71-13C>A	ENSP00000386000.1:n.71-13C>A
ENST00000403262.6:c.93C>A	ENSP00000385671.1:p.Asp31Glu
ENST00000405076.5:c.93C>A	ENSP00000385175.1:p.Asp31Glu
ENST00000405983.5:c.138C>A	ENSP00000384586.1:p.Asp46Glu
ENST00000415514.5:c.228-315C>A	ENSP00000388043.1:n.228-315C>A
ENST00000426513.6:c.71-13C>A	ENSP00000403824.2:n.71-13C>A
ENST00000428910.5:c.15C>A	ENSP00000405235.1:p.Asp5Glu
ENST00000430991.5:c.23C>A
ENST00000616446.1:n.70C>A
ENST00000616707.1:n.301C>A
ENST00000617583.4:n.119C>A
ENST00000621183.4:n.149C>A
ENST00000621470.4:n.122-13C>A
ENST00000622003.4:n.266C>A
NM_002437.4:c.93C>A	NP_002428.1:p.Asp31Glu
XM_005264326.2:c.93C>A	XP_005264383.1:p.Asp31Glu
XM_005264327.2:c.-54-13C>A	XP_005264384.1:n.-54-13C>A
XM_006712021.2:c.45C>A	XP_006712084.1:p.Asp15Glu
XM_005264326.4:c.93C>A	XP_005264383.1:p.Asp31Glu
XM_006712021.3:c.45C>A	XP_006712084.1:p.Asp15Glu
XM_017004150.1:c.75C>A	XP_016859639.1:p.Asp25Glu
XM_017004151.1:c.45C>A	XP_016859640.1:p.Asp15Glu
XM_017004152.1:c.-54-13C>A	XP_016859641.1:n.-54-13C>A
XM_024452913.1:c.45C>A	XP_024308681.1:p.Asp15Glu
NM_002437.5:c.93C>A MANE Select	NP_002428.1:p.Asp31Glu