Canonical Allele Identifier: CA346205494

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532837G>T (hg19) ; chr2:g.27309969G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309969G>T , CM000664.2:g.27309969G>T	GRCh38
NC_000002.11:g.27532837G>T , CM000664.1:g.27532837G>T	GRCh37
NC_000002.10:g.27386341G>T	NCBI36
NG_008075.1:g.17595C>A
NG_033055.1:g.3294C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.474C>A MANE Select	ENSP00000369383.1:p.Val158=
ENST00000233545.6:c.474C>A	ENSP00000233545.2:p.Val158=
ENST00000357186.10:c.306C>A	ENSP00000349713.6:p.Val102=
ENST00000380044.5:c.474C>A	ENSP00000369383.1:p.Val158=
ENST00000402310.5:c.421C>A	ENSP00000383955.1:p.Pro141Thr
ENST00000402722.5:c.*53C>A	ENSP00000386000.1:n.*53C>A
ENST00000405076.5:c.285C>A	ENSP00000385175.1:p.Val95=
ENST00000405983.5:c.519C>A	ENSP00000384586.1:p.Val173=
ENST00000415514.5:c.*275C>A	ENSP00000388043.1:n.*275C>A
ENST00000426513.6:c.*139C>A	ENSP00000403824.2:n.*139C>A
ENST00000430991.5:c.308C>A
ENST00000620797.4:n.147C>A
ENST00000621183.4:n.777C>A
NM_002437.4:c.474C>A	NP_002428.1:p.Val158=
XM_005264326.2:c.474C>A	XP_005264383.1:p.Val158=
XM_005264327.2:c.315C>A	XP_005264384.1:p.Val105=
XM_006712021.2:c.426C>A	XP_006712084.1:p.Val142=
XM_005264326.4:c.474C>A	XP_005264383.1:p.Val158=
XM_006712021.3:c.426C>A	XP_006712084.1:p.Val142=
XM_017004150.1:c.456C>A	XP_016859639.1:p.Val152=
XM_017004151.1:c.426C>A	XP_016859640.1:p.Val142=
XM_017004152.1:c.315C>A	XP_016859641.1:p.Val105=
XM_024452913.1:c.426C>A	XP_024308681.1:p.Val142=
NM_002437.5:c.474C>A MANE Select	NP_002428.1:p.Val158=