Canonical Allele Identifier: CA346205525

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532841A>T (hg19) ; chr2:g.27309973A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309973A>T , CM000664.2:g.27309973A>T	GRCh38
NC_000002.11:g.27532841A>T , CM000664.1:g.27532841A>T	GRCh37
NC_000002.10:g.27386345A>T	NCBI36
NG_008075.1:g.17591T>A
NG_033055.1:g.3290T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.470T>A MANE Select	ENSP00000369383.1:p.Val157Asp
ENST00000233545.6:c.470T>A	ENSP00000233545.2:p.Val157Asp
ENST00000357186.10:c.302T>A	ENSP00000349713.6:p.Val101Asp
ENST00000380044.5:c.470T>A	ENSP00000369383.1:p.Val157Asp
ENST00000402310.5:c.417T>A	ENSP00000383955.1:p.Arg139=
ENST00000402722.5:c.*49T>A	ENSP00000386000.1:n.*49T>A
ENST00000405076.5:c.281T>A	ENSP00000385175.1:p.Val94Asp
ENST00000405983.5:c.515T>A	ENSP00000384586.1:p.Val172Asp
ENST00000415514.5:c.*271T>A	ENSP00000388043.1:n.*271T>A
ENST00000426513.6:c.*135T>A	ENSP00000403824.2:n.*135T>A
ENST00000430991.5:c.304T>A
ENST00000620797.4:n.143T>A
ENST00000621183.4:n.773T>A
NM_002437.4:c.470T>A	NP_002428.1:p.Val157Asp
XM_005264326.2:c.470T>A	XP_005264383.1:p.Val157Asp
XM_005264327.2:c.311T>A	XP_005264384.1:p.Val104Asp
XM_006712021.2:c.422T>A	XP_006712084.1:p.Val141Asp
XM_005264326.4:c.470T>A	XP_005264383.1:p.Val157Asp
XM_006712021.3:c.422T>A	XP_006712084.1:p.Val141Asp
XM_017004150.1:c.452T>A	XP_016859639.1:p.Val151Asp
XM_017004151.1:c.422T>A	XP_016859640.1:p.Val141Asp
XM_017004152.1:c.311T>A	XP_016859641.1:p.Val104Asp
XM_024452913.1:c.422T>A	XP_024308681.1:p.Val141Asp
NM_002437.5:c.470T>A MANE Select	NP_002428.1:p.Val157Asp