Canonical Allele Identifier: CA346208561

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535568C>A (hg19) ; chr2:g.27312701C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312701C>A , CM000664.2:g.27312701C>A	GRCh38
NC_000002.11:g.27535568C>A , CM000664.1:g.27535568C>A	GRCh37
NC_000002.10:g.27389072C>A	NCBI36
NG_008075.1:g.14864G>T
NG_033055.1:g.563G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.258G>T MANE Select	ENSP00000369383.1:p.Leu86=
ENST00000233545.6:c.258G>T	ENSP00000233545.2:p.Leu86=
ENST00000357186.10:c.90G>T	ENSP00000349713.6:p.Leu30=
ENST00000380044.5:c.258G>T	ENSP00000369383.1:p.Leu86=
ENST00000402310.5:c.258G>T	ENSP00000383955.1:p.Leu86=
ENST00000402722.5:c.223G>T	ENSP00000386000.1:p.Glu75Ter
ENST00000403262.6:c.258G>T	ENSP00000385671.1:p.Leu86=
ENST00000405076.5:c.186+293G>T	ENSP00000385175.1:n.186+293G>T
ENST00000405983.5:c.303G>T	ENSP00000384586.1:p.Leu101=
ENST00000415514.5:c.*59G>T	ENSP00000388043.1:n.*59G>T
ENST00000426513.6:c.223G>T	ENSP00000403824.2:p.Glu75Ter
ENST00000428910.5:c.180G>T	ENSP00000405235.1:p.Leu60=
ENST00000430991.5:c.188G>T
ENST00000475085.1:n.286G>T
ENST00000616446.1:n.235G>T
ENST00000616707.1:n.687G>T
ENST00000617583.4:n.284G>T
ENST00000621183.4:n.314G>T
ENST00000621470.4:n.274G>T
ENST00000622003.4:n.431G>T
NM_002437.4:c.258G>T	NP_002428.1:p.Leu86=
XM_005264326.2:c.258G>T	XP_005264383.1:p.Leu86=
XM_005264327.2:c.99G>T	XP_005264384.1:p.Leu33=
XM_006712021.2:c.210G>T	XP_006712084.1:p.Leu70=
XM_005264326.4:c.258G>T	XP_005264383.1:p.Leu86=
XM_006712021.3:c.210G>T	XP_006712084.1:p.Leu70=
XM_017004150.1:c.240G>T	XP_016859639.1:p.Leu80=
XM_017004151.1:c.210G>T	XP_016859640.1:p.Leu70=
XM_017004152.1:c.99G>T	XP_016859641.1:p.Leu33=
XM_024452913.1:c.210G>T	XP_024308681.1:p.Leu70=
NM_002437.5:c.258G>T MANE Select	NP_002428.1:p.Leu86=