Canonical Allele Identifier: CA346205566

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532847A>T (hg19) ; chr2:g.27309979A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309979A>T , CM000664.2:g.27309979A>T	GRCh38
NC_000002.11:g.27532847A>T , CM000664.1:g.27532847A>T	GRCh37
NC_000002.10:g.27386351A>T	NCBI36
NG_008075.1:g.17585T>A
NG_033055.1:g.3284T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.464T>A MANE Select	ENSP00000369383.1:p.Leu155Ter
ENST00000233545.6:c.464T>A	ENSP00000233545.2:p.Leu155Ter
ENST00000357186.10:c.296T>A	ENSP00000349713.6:p.Leu99Ter
ENST00000380044.5:c.464T>A	ENSP00000369383.1:p.Leu155Ter
ENST00000402310.5:c.411T>A	ENSP00000383955.1:p.Val137=
ENST00000402722.5:c.*43T>A	ENSP00000386000.1:n.*43T>A
ENST00000405076.5:c.275T>A	ENSP00000385175.1:p.Leu92Ter
ENST00000405983.5:c.509T>A	ENSP00000384586.1:p.Leu170Ter
ENST00000415514.5:c.*265T>A	ENSP00000388043.1:n.*265T>A
ENST00000426513.6:c.*129T>A	ENSP00000403824.2:n.*129T>A
ENST00000430991.5:c.298T>A
ENST00000620797.4:n.137T>A
ENST00000621183.4:n.767T>A
NM_002437.4:c.464T>A	NP_002428.1:p.Leu155Ter
XM_005264326.2:c.464T>A	XP_005264383.1:p.Leu155Ter
XM_005264327.2:c.305T>A	XP_005264384.1:p.Leu102Ter
XM_006712021.2:c.416T>A	XP_006712084.1:p.Leu139Ter
XM_005264326.4:c.464T>A	XP_005264383.1:p.Leu155Ter
XM_006712021.3:c.416T>A	XP_006712084.1:p.Leu139Ter
XM_017004150.1:c.446T>A	XP_016859639.1:p.Leu149Ter
XM_017004151.1:c.416T>A	XP_016859640.1:p.Leu139Ter
XM_017004152.1:c.305T>A	XP_016859641.1:p.Leu102Ter
XM_024452913.1:c.416T>A	XP_024308681.1:p.Leu139Ter
NM_002437.5:c.464T>A MANE Select	NP_002428.1:p.Leu155Ter