Canonical Allele Identifier: CA425388182

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27545324G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322457G>A , CM000664.2:g.27322457G>A	GRCh38
NC_000002.11:g.27545324G>A , CM000664.1:g.27545324G>A	GRCh37
NC_000002.10:g.27398828G>A	NCBI36
NG_008075.1:g.5108C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.61C>T MANE Select	ENSP00000369383.1:p.Leu21=
ENST00000233545.6:c.61C>T	ENSP00000233545.2:p.Leu21=
ENST00000357186.10:c.18+1976C>T	ENSP00000349713.6:n.18+1976C>T
ENST00000380044.5:c.61C>T	ENSP00000369383.1:p.Leu21=
ENST00000399052.8:c.61C>T	ENSP00000382006.4:p.Leu21=
ENST00000402310.5:c.61C>T	ENSP00000383955.1:p.Leu21=
ENST00000402722.5:c.61C>T	ENSP00000386000.1:p.Leu21=
ENST00000403262.6:c.61C>T	ENSP00000385671.1:p.Leu21=
ENST00000405076.5:c.61C>T	ENSP00000385175.1:p.Leu21=
ENST00000405983.5:c.61C>T	ENSP00000384586.1:p.Leu21=
ENST00000415514.5:c.61C>T	ENSP00000388043.1:p.Leu21=
ENST00000426513.6:c.61C>T	ENSP00000403824.2:p.Leu21=
ENST00000428910.5:c.-142C>T	ENSP00000405235.1:n.-142C>T
ENST00000486898.1:n.112C>T
ENST00000494436.1:n.92C>T
ENST00000617583.4:n.87C>T
ENST00000621183.4:n.117C>T
ENST00000621470.4:n.112C>T
ENST00000622003.4:n.77C>T
NM_002437.4:c.61C>T	NP_002428.1:p.Leu21=
XM_005264326.2:c.61C>T	XP_005264383.1:p.Leu21=
XM_005264327.2:c.-64C>T	XP_005264384.1:n.-64C>T
XM_006712021.2:c.-145C>T	XP_006712084.1:n.-145C>T
XM_005264326.4:c.61C>T	XP_005264383.1:p.Leu21=
XM_006712021.3:c.-145C>T	XP_006712084.1:n.-145C>T
XM_017004150.1:c.-3192C>T	XP_016859639.1:n.-3192C>T
XM_017004151.1:c.-84C>T	XP_016859640.1:n.-84C>T
XM_017004152.1:c.-221C>T	XP_016859641.1:n.-221C>T
XM_024452913.1:c.-145C>T	XP_024308681.1:n.-145C>T
NM_002437.5:c.61C>T MANE Select	NP_002428.1:p.Leu21=