Canonical Allele Identifier: CA346209367

Gene: MPV17

Linked Data

• ClinVar Variation Id: 2093052
• ClinVar RCV Id: RCV003018517
• dbSNP Id: rs1376297227
• gnomAD v2: 2-27535913-T-A
• gnomAD v3: 2-27313046-T-A
• gnomAD v4: 2-27313046-T-A
• MyVariant Identifiers: chr2:g.27535913T>A (hg19) ; chr2:g.27313046T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313046T>A , CM000664.2:g.27313046T>A	GRCh38
NC_000002.11:g.27535913T>A , CM000664.1:g.27535913T>A	GRCh37
NC_000002.10:g.27389417T>A	NCBI36
NG_008075.1:g.14519A>T
NG_033055.1:g.218A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.134A>T MANE Select	ENSP00000369383.1:p.Glu45Val
ENST00000233545.6:c.134A>T	ENSP00000233545.2:p.Glu45Val
ENST00000357186.10:c.19-274A>T	ENSP00000349713.6:n.19-274A>T
ENST00000380044.5:c.134A>T	ENSP00000369383.1:p.Glu45Val
ENST00000402310.5:c.134A>T	ENSP00000383955.1:p.Glu45Val
ENST00000402722.5:c.99A>T	ENSP00000386000.1:p.Gly33=
ENST00000403262.6:c.134A>T	ENSP00000385671.1:p.Glu45Val
ENST00000405076.5:c.134A>T	ENSP00000385175.1:p.Glu45Val
ENST00000405983.5:c.179A>T	ENSP00000384586.1:p.Glu60Val
ENST00000415514.5:c.228-274A>T	ENSP00000388043.1:n.228-274A>T
ENST00000426513.6:c.99A>T	ENSP00000403824.2:p.Gly33=
ENST00000428910.5:c.56A>T	ENSP00000405235.1:p.Glu19Val
ENST00000430991.5:c.64A>T
ENST00000616446.1:n.111A>T
ENST00000616707.1:n.342A>T
ENST00000617583.4:n.160A>T
ENST00000621183.4:n.190A>T
ENST00000621470.4:n.150A>T
ENST00000622003.4:n.307A>T
NM_002437.4:c.134A>T	NP_002428.1:p.Glu45Val
XM_005264326.2:c.134A>T	XP_005264383.1:p.Glu45Val
XM_005264327.2:c.-26A>T	XP_005264384.1:n.-26A>T
XM_006712021.2:c.86A>T	XP_006712084.1:p.Glu29Val
XM_005264326.4:c.134A>T	XP_005264383.1:p.Glu45Val
XM_006712021.3:c.86A>T	XP_006712084.1:p.Glu29Val
XM_017004150.1:c.116A>T	XP_016859639.1:p.Glu39Val
XM_017004151.1:c.86A>T	XP_016859640.1:p.Glu29Val
XM_017004152.1:c.-26A>T	XP_016859641.1:n.-26A>T
XM_024452913.1:c.86A>T	XP_024308681.1:p.Glu29Val
NM_002437.5:c.134A>T MANE Select	NP_002428.1:p.Glu45Val