Canonical Allele Identifier: CA346208364

Gene: MPV17

Linked Data

• dbSNP Id: rs267607257
• gnomAD v3: 2-27312589-C-T
• gnomAD v4: 2-27312589-C-T
• MyVariant Identifiers: chr2:g.27535456C>T (hg19) ; chr2:g.27312589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312589C>T , CM000664.2:g.27312589C>T	GRCh38
NC_000002.11:g.27535456C>T , CM000664.1:g.27535456C>T	GRCh37
NC_000002.10:g.27388960C>T	NCBI36
NG_008075.1:g.14976G>A
NG_033055.1:g.675G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.280G>A MANE Select	ENSP00000369383.1:p.Gly94Arg
ENST00000233545.6:c.280G>A	ENSP00000233545.2:p.Gly94Arg
ENST00000357186.10:c.112G>A	ENSP00000349713.6:p.Gly38Arg
ENST00000380044.5:c.280G>A	ENSP00000369383.1:p.Gly94Arg
ENST00000402310.5:c.280G>A	ENSP00000383955.1:p.Gly94Arg
ENST00000402722.5:c.245G>A	ENSP00000386000.1:p.Gly82Glu
ENST00000403262.6:c.280G>A	ENSP00000385671.1:p.Gly94Arg
ENST00000405076.5:c.187-343G>A	ENSP00000385175.1:n.187-343G>A
ENST00000405983.5:c.325G>A	ENSP00000384586.1:p.Gly109Arg
ENST00000415514.5:c.*81G>A	ENSP00000388043.1:n.*81G>A
ENST00000426513.6:c.245G>A	ENSP00000403824.2:p.Gly82Glu
ENST00000428910.5:c.202G>A	ENSP00000405235.1:p.Gly68Arg
ENST00000430991.5:c.209+91G>A
ENST00000475085.1:n.308G>A
ENST00000616446.1:n.257G>A
ENST00000616707.1:n.799G>A
ENST00000617583.4:n.306G>A
ENST00000621183.4:n.336G>A
ENST00000621470.4:n.296G>A
ENST00000622003.4:n.453G>A
NM_002437.4:c.280G>A	NP_002428.1:p.Gly94Arg
XM_005264326.2:c.280G>A	XP_005264383.1:p.Gly94Arg
XM_005264327.2:c.121G>A	XP_005264384.1:p.Gly41Arg
XM_006712021.2:c.232G>A	XP_006712084.1:p.Gly78Arg
XM_005264326.4:c.280G>A	XP_005264383.1:p.Gly94Arg
XM_006712021.3:c.232G>A	XP_006712084.1:p.Gly78Arg
XM_017004150.1:c.262G>A	XP_016859639.1:p.Gly88Arg
XM_017004151.1:c.232G>A	XP_016859640.1:p.Gly78Arg
XM_017004152.1:c.121G>A	XP_016859641.1:p.Gly41Arg
XM_024452913.1:c.232G>A	XP_024308681.1:p.Gly78Arg
NM_002437.5:c.280G>A MANE Select	NP_002428.1:p.Gly94Arg