Canonical Allele Identifier: CA346205539

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532843G>T (hg19) ; chr2:g.27309975G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309975G>T , CM000664.2:g.27309975G>T	GRCh38
NC_000002.11:g.27532843G>T , CM000664.1:g.27532843G>T	GRCh37
NC_000002.10:g.27386347G>T	NCBI36
NG_008075.1:g.17589C>A
NG_033055.1:g.3288C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.468C>A MANE Select	ENSP00000369383.1:p.Ala156=
ENST00000233545.6:c.468C>A	ENSP00000233545.2:p.Ala156=
ENST00000357186.10:c.300C>A	ENSP00000349713.6:p.Ala100=
ENST00000380044.5:c.468C>A	ENSP00000369383.1:p.Ala156=
ENST00000402310.5:c.415C>A	ENSP00000383955.1:p.Arg139Ser
ENST00000402722.5:c.*47C>A	ENSP00000386000.1:n.*47C>A
ENST00000405076.5:c.279C>A	ENSP00000385175.1:p.Ala93=
ENST00000405983.5:c.513C>A	ENSP00000384586.1:p.Ala171=
ENST00000415514.5:c.*269C>A	ENSP00000388043.1:n.*269C>A
ENST00000426513.6:c.*133C>A	ENSP00000403824.2:n.*133C>A
ENST00000430991.5:c.302C>A
ENST00000620797.4:n.141C>A
ENST00000621183.4:n.771C>A
NM_002437.4:c.468C>A	NP_002428.1:p.Ala156=
XM_005264326.2:c.468C>A	XP_005264383.1:p.Ala156=
XM_005264327.2:c.309C>A	XP_005264384.1:p.Ala103=
XM_006712021.2:c.420C>A	XP_006712084.1:p.Ala140=
XM_005264326.4:c.468C>A	XP_005264383.1:p.Ala156=
XM_006712021.3:c.420C>A	XP_006712084.1:p.Ala140=
XM_017004150.1:c.450C>A	XP_016859639.1:p.Ala150=
XM_017004151.1:c.420C>A	XP_016859640.1:p.Ala140=
XM_017004152.1:c.309C>A	XP_016859641.1:p.Ala103=
XM_024452913.1:c.420C>A	XP_024308681.1:p.Ala140=
NM_002437.5:c.468C>A MANE Select	NP_002428.1:p.Ala156=