Canonical Allele Identifier: CA346208415

Gene: MPV17

Linked Data

• ClinVar Variation Id: 694362
• ClinVar RCV Id: RCV000855704 ; RCV002272375
• dbSNP Id: rs200938111
• MyVariant Identifiers: chr2:g.27535548T>G (hg19) ; chr2:g.27312681T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312681T>G , CM000664.2:g.27312681T>G	GRCh38
NC_000002.11:g.27535548T>G , CM000664.1:g.27535548T>G	GRCh37
NC_000002.10:g.27389052T>G	NCBI36
NG_008075.1:g.14884A>C
NG_033055.1:g.583A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.278A>C MANE Select	ENSP00000369383.1:p.Gln93Pro
ENST00000233545.6:c.278A>C	ENSP00000233545.2:p.Gln93Pro
ENST00000357186.10:c.110A>C	ENSP00000349713.6:p.Gln37Pro
ENST00000380044.5:c.278A>C	ENSP00000369383.1:p.Gln93Pro
ENST00000402310.5:c.278A>C	ENSP00000383955.1:p.Gln93Pro
ENST00000402722.5:c.243A>C	ENSP00000386000.1:p.Ser81=
ENST00000403262.6:c.278A>C	ENSP00000385671.1:p.Gln93Pro
ENST00000405076.5:c.186+313A>C	ENSP00000385175.1:n.186+313A>C
ENST00000405983.5:c.323A>C	ENSP00000384586.1:p.Gln108Pro
ENST00000415514.5:c.*79A>C	ENSP00000388043.1:n.*79A>C
ENST00000426513.6:c.243A>C	ENSP00000403824.2:p.Ser81=
ENST00000428910.5:c.200A>C	ENSP00000405235.1:p.Gln67Pro
ENST00000430991.5:c.208A>C
ENST00000475085.1:n.306A>C
ENST00000616446.1:n.255A>C
ENST00000616707.1:n.707A>C
ENST00000617583.4:n.304A>C
ENST00000621183.4:n.334A>C
ENST00000621470.4:n.294A>C
ENST00000622003.4:n.451A>C
NM_002437.4:c.278A>C	NP_002428.1:p.Gln93Pro
XM_005264326.2:c.278A>C	XP_005264383.1:p.Gln93Pro
XM_005264327.2:c.119A>C	XP_005264384.1:p.Gln40Pro
XM_006712021.2:c.230A>C	XP_006712084.1:p.Gln77Pro
XM_005264326.4:c.278A>C	XP_005264383.1:p.Gln93Pro
XM_006712021.3:c.230A>C	XP_006712084.1:p.Gln77Pro
XM_017004150.1:c.260A>C	XP_016859639.1:p.Gln87Pro
XM_017004151.1:c.230A>C	XP_016859640.1:p.Gln77Pro
XM_017004152.1:c.119A>C	XP_016859641.1:p.Gln40Pro
XM_024452913.1:c.230A>C	XP_024308681.1:p.Gln77Pro
NM_002437.5:c.278A>C MANE Select	NP_002428.1:p.Gln93Pro