Canonical Allele Identifier: CA346207754

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535364C>A (hg19) ; chr2:g.27312497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312497C>A , CM000664.2:g.27312497C>A	GRCh38
NC_000002.11:g.27535364C>A , CM000664.1:g.27535364C>A	GRCh37
NC_000002.10:g.27388868C>A	NCBI36
NG_008075.1:g.15068G>T
NG_033055.1:g.767G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.372G>T MANE Select	ENSP00000369383.1:p.Gln124His
ENST00000233545.6:c.372G>T	ENSP00000233545.2:p.Gln124His
ENST00000357186.10:c.204G>T	ENSP00000349713.6:p.Gln68His
ENST00000380044.5:c.372G>T	ENSP00000369383.1:p.Gln124His
ENST00000402310.5:c.372G>T	ENSP00000383955.1:p.Gln124His
ENST00000402722.5:c.*37G>T	ENSP00000386000.1:n.*37G>T
ENST00000403262.6:c.372G>T	ENSP00000385671.1:p.Gln124His
ENST00000405076.5:c.187-251G>T	ENSP00000385175.1:n.187-251G>T
ENST00000405983.5:c.417G>T	ENSP00000384586.1:p.Gln139His
ENST00000415514.5:c.*173G>T	ENSP00000388043.1:n.*173G>T
ENST00000426513.6:c.*37G>T	ENSP00000403824.2:n.*37G>T
ENST00000428910.5:c.294G>T	ENSP00000405235.1:p.Gln98His
ENST00000430991.5:c.209+183G>T
ENST00000475085.1:n.400G>T
ENST00000616446.1:n.349G>T
ENST00000616707.1:n.891G>T
ENST00000617583.4:n.398G>T
ENST00000621183.4:n.428G>T
ENST00000621470.4:n.388G>T
ENST00000622003.4:n.545G>T
NM_002437.4:c.372G>T	NP_002428.1:p.Gln124His
XM_005264326.2:c.372G>T	XP_005264383.1:p.Gln124His
XM_005264327.2:c.213G>T	XP_005264384.1:p.Gln71His
XM_006712021.2:c.324G>T	XP_006712084.1:p.Gln108His
XM_005264326.4:c.372G>T	XP_005264383.1:p.Gln124His
XM_006712021.3:c.324G>T	XP_006712084.1:p.Gln108His
XM_017004150.1:c.354G>T	XP_016859639.1:p.Gln118His
XM_017004151.1:c.324G>T	XP_016859640.1:p.Gln108His
XM_017004152.1:c.213G>T	XP_016859641.1:p.Gln71His
XM_024452913.1:c.324G>T	XP_024308681.1:p.Gln108His
NM_002437.5:c.372G>T MANE Select	NP_002428.1:p.Gln124His