Canonical Allele Identifier: CA346205389

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532814T>A (hg19) ; chr2:g.27309946T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309946T>A , CM000664.2:g.27309946T>A	GRCh38
NC_000002.11:g.27532814T>A , CM000664.1:g.27532814T>A	GRCh37
NC_000002.10:g.27386318T>A	NCBI36
NG_008075.1:g.17618A>T
NG_033055.1:g.3317A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.497A>T MANE Select	ENSP00000369383.1:p.Asn166Ile
ENST00000233545.6:c.497A>T	ENSP00000233545.2:p.Asn166Ile
ENST00000357186.10:c.329A>T	ENSP00000349713.6:p.Asn110Ile
ENST00000380044.5:c.497A>T	ENSP00000369383.1:p.Asn166Ile
ENST00000402310.5:c.444A>T	ENSP00000383955.1:p.Glu148Asp
ENST00000402722.5:c.*76A>T	ENSP00000386000.1:n.*76A>T
ENST00000405076.5:c.308A>T	ENSP00000385175.1:p.Asn103Ile
ENST00000405983.5:c.542A>T	ENSP00000384586.1:p.Asn181Ile
ENST00000415514.5:c.*298A>T	ENSP00000388043.1:n.*298A>T
ENST00000426513.6:c.*162A>T	ENSP00000403824.2:n.*162A>T
ENST00000430991.5:c.331A>T
ENST00000620797.4:n.170A>T
ENST00000621183.4:n.800A>T
NM_002437.4:c.497A>T	NP_002428.1:p.Asn166Ile
XM_005264326.2:c.497A>T	XP_005264383.1:p.Asn166Ile
XM_005264327.2:c.338A>T	XP_005264384.1:p.Asn113Ile
XM_006712021.2:c.449A>T	XP_006712084.1:p.Asn150Ile
XM_005264326.4:c.497A>T	XP_005264383.1:p.Asn166Ile
XM_006712021.3:c.449A>T	XP_006712084.1:p.Asn150Ile
XM_017004150.1:c.479A>T	XP_016859639.1:p.Asn160Ile
XM_017004151.1:c.449A>T	XP_016859640.1:p.Asn150Ile
XM_017004152.1:c.338A>T	XP_016859641.1:p.Asn113Ile
XM_024452913.1:c.449A>T	XP_024308681.1:p.Asn150Ile
NM_002437.5:c.497A>T MANE Select	NP_002428.1:p.Asn166Ile