Canonical Allele Identifier: CA346208235

Gene: MPV17

Linked Data

• ClinVar Variation Id: 522373
• ClinVar RCV Id: RCV000625517
• dbSNP Id: rs1553383467
• MyVariant Identifiers: chr2:g.27535439A>T (hg19) ; chr2:g.27312572A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312572A>T , CM000664.2:g.27312572A>T	GRCh38
NC_000002.11:g.27535439A>T , CM000664.1:g.27535439A>T	GRCh37
NC_000002.10:g.27388943A>T	NCBI36
NG_008075.1:g.14993T>A
NG_033055.1:g.692T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.297T>A MANE Select	ENSP00000369383.1:p.Cys99Ter
ENST00000233545.6:c.297T>A	ENSP00000233545.2:p.Cys99Ter
ENST00000357186.10:c.129T>A	ENSP00000349713.6:p.Cys43Ter
ENST00000380044.5:c.297T>A	ENSP00000369383.1:p.Cys99Ter
ENST00000402310.5:c.297T>A	ENSP00000383955.1:p.Cys99Ter
ENST00000402722.5:c.262T>A	ENSP00000386000.1:p.Phe88Ile
ENST00000403262.6:c.297T>A	ENSP00000385671.1:p.Cys99Ter
ENST00000405076.5:c.187-326T>A	ENSP00000385175.1:n.187-326T>A
ENST00000405983.5:c.342T>A	ENSP00000384586.1:p.Cys114Ter
ENST00000415514.5:c.*98T>A	ENSP00000388043.1:n.*98T>A
ENST00000426513.6:c.262T>A	ENSP00000403824.2:p.Phe88Ile
ENST00000428910.5:c.219T>A	ENSP00000405235.1:p.Cys73Ter
ENST00000430991.5:c.209+108T>A
ENST00000475085.1:n.325T>A
ENST00000616446.1:n.274T>A
ENST00000616707.1:n.816T>A
ENST00000617583.4:n.323T>A
ENST00000621183.4:n.353T>A
ENST00000621470.4:n.313T>A
ENST00000622003.4:n.470T>A
NM_002437.4:c.297T>A	NP_002428.1:p.Cys99Ter
XM_005264326.2:c.297T>A	XP_005264383.1:p.Cys99Ter
XM_005264327.2:c.138T>A	XP_005264384.1:p.Cys46Ter
XM_006712021.2:c.249T>A	XP_006712084.1:p.Cys83Ter
XM_005264326.4:c.297T>A	XP_005264383.1:p.Cys99Ter
XM_006712021.3:c.249T>A	XP_006712084.1:p.Cys83Ter
XM_017004150.1:c.279T>A	XP_016859639.1:p.Cys93Ter
XM_017004151.1:c.249T>A	XP_016859640.1:p.Cys83Ter
XM_017004152.1:c.138T>A	XP_016859641.1:p.Cys46Ter
XM_024452913.1:c.249T>A	XP_024308681.1:p.Cys83Ter
NM_002437.5:c.297T>A MANE Select	NP_002428.1:p.Cys99Ter