Canonical Allele Identifier: CA1575598

Gene: MPV17

Linked Data

• ClinVar Variation Id: 2989403
• ClinVar RCV Id: RCV003849554
• dbSNP Id: rs772990781
• ExAC: 2:27535470 A / T
• gnomAD v2: 2-27535470-A-T
• gnomAD v4: 2-27312603-A-T
• MyVariant Identifiers: chr2:g.27535470A>T (hg19) ; chr2:g.27312603A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312603A>T , CM000664.2:g.27312603A>T	GRCh38
NC_000002.11:g.27535470A>T , CM000664.1:g.27535470A>T	GRCh37
NC_000002.10:g.27388974A>T	NCBI36
NG_008075.1:g.14962T>A
NG_033055.1:g.661T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.280-14T>A MANE Select	ENSP00000369383.1:n.280-14T>A
ENST00000233545.6:c.280-14T>A	ENSP00000233545.2:n.280-14T>A
ENST00000357186.10:c.112-14T>A	ENSP00000349713.6:n.112-14T>A
ENST00000380044.5:c.280-14T>A	ENSP00000369383.1:n.280-14T>A
ENST00000402310.5:c.280-14T>A	ENSP00000383955.1:n.280-14T>A
ENST00000402722.5:c.245-14T>A	ENSP00000386000.1:n.245-14T>A
ENST00000403262.6:c.280-14T>A	ENSP00000385671.1:n.280-14T>A
ENST00000405076.5:c.187-357T>A	ENSP00000385175.1:n.187-357T>A
ENST00000405983.5:c.325-14T>A	ENSP00000384586.1:n.325-14T>A
ENST00000415514.5:c.*81-14T>A	ENSP00000388043.1:n.*81-14T>A
ENST00000426513.6:c.245-14T>A	ENSP00000403824.2:n.245-14T>A
ENST00000428910.5:c.202-14T>A	ENSP00000405235.1:n.202-14T>A
ENST00000430991.5:c.209+77T>A
ENST00000475085.1:n.308-14T>A
ENST00000616446.1:n.257-14T>A
ENST00000616707.1:n.785T>A
ENST00000617583.4:n.306-14T>A
ENST00000621183.4:n.336-14T>A
ENST00000621470.4:n.296-14T>A
ENST00000622003.4:n.453-14T>A
NM_002437.4:c.280-14T>A	NP_002428.1:n.280-14T>A
XM_005264326.2:c.280-14T>A	XP_005264383.1:n.280-14T>A
XM_005264327.2:c.121-14T>A	XP_005264384.1:n.121-14T>A
XM_006712021.2:c.232-14T>A	XP_006712084.1:n.232-14T>A
XM_005264326.4:c.280-14T>A	XP_005264383.1:n.280-14T>A
XM_006712021.3:c.232-14T>A	XP_006712084.1:n.232-14T>A
XM_017004150.1:c.262-14T>A	XP_016859639.1:n.262-14T>A
XM_017004151.1:c.232-14T>A	XP_016859640.1:n.232-14T>A
XM_017004152.1:c.121-14T>A	XP_016859641.1:n.121-14T>A
XM_024452913.1:c.232-14T>A	XP_024308681.1:n.232-14T>A
NM_002437.5:c.280-14T>A MANE Select	NP_002428.1:n.280-14T>A