Canonical Allele Identifier: CA346208452

Gene: MPV17

Linked Data

• ClinVar Variation Id: 522371
• ClinVar RCV Id: RCV000625514
• dbSNP Id: rs1057524366
• MyVariant Identifiers: chr2:g.27535551T>C (hg19) ; chr2:g.27312684T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312684T>C , CM000664.2:g.27312684T>C	GRCh38
NC_000002.11:g.27535551T>C , CM000664.1:g.27535551T>C	GRCh37
NC_000002.10:g.27389055T>C	NCBI36
NG_008075.1:g.14881A>G
NG_033055.1:g.580A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.275A>G MANE Select	ENSP00000369383.1:p.Asp92Gly
ENST00000233545.6:c.275A>G	ENSP00000233545.2:p.Asp92Gly
ENST00000357186.10:c.107A>G	ENSP00000349713.6:p.Asp36Gly
ENST00000380044.5:c.275A>G	ENSP00000369383.1:p.Asp92Gly
ENST00000402310.5:c.275A>G	ENSP00000383955.1:p.Asp92Gly
ENST00000402722.5:c.240A>G	ENSP00000386000.1:p.Gly80=
ENST00000403262.6:c.275A>G	ENSP00000385671.1:p.Asp92Gly
ENST00000405076.5:c.186+310A>G	ENSP00000385175.1:n.186+310A>G
ENST00000405983.5:c.320A>G	ENSP00000384586.1:p.Asp107Gly
ENST00000415514.5:c.*76A>G	ENSP00000388043.1:n.*76A>G
ENST00000426513.6:c.240A>G	ENSP00000403824.2:p.Gly80=
ENST00000428910.5:c.197A>G	ENSP00000405235.1:p.Asp66Gly
ENST00000430991.5:c.205A>G
ENST00000475085.1:n.303A>G
ENST00000616446.1:n.252A>G
ENST00000616707.1:n.704A>G
ENST00000617583.4:n.301A>G
ENST00000621183.4:n.331A>G
ENST00000621470.4:n.291A>G
ENST00000622003.4:n.448A>G
NM_002437.4:c.275A>G	NP_002428.1:p.Asp92Gly
XM_005264326.2:c.275A>G	XP_005264383.1:p.Asp92Gly
XM_005264327.2:c.116A>G	XP_005264384.1:p.Asp39Gly
XM_006712021.2:c.227A>G	XP_006712084.1:p.Asp76Gly
XM_005264326.4:c.275A>G	XP_005264383.1:p.Asp92Gly
XM_006712021.3:c.227A>G	XP_006712084.1:p.Asp76Gly
XM_017004150.1:c.257A>G	XP_016859639.1:p.Asp86Gly
XM_017004151.1:c.227A>G	XP_016859640.1:p.Asp76Gly
XM_017004152.1:c.116A>G	XP_016859641.1:p.Asp39Gly
XM_024452913.1:c.227A>G	XP_024308681.1:p.Asp76Gly
NM_002437.5:c.275A>G MANE Select	NP_002428.1:p.Asp92Gly