Canonical Allele Identifier: CA342982

Gene: MPV17

Linked Data

• ClinVar Variation Id: 38356
• ClinVar RCV Id: RCV000031912 ; RCV001390941 ; RCV003227466 ; RCV003460536
• dbSNP Id: rs267607267
• gnomAD v4: 2-27311908-A-AG
• MyVariant Identifiers: chr2:g.27534777dupG (hg19) ; chr2:g.27534776_27534777insG (hg19) ; chr2:g.27311909dupG (hg38) ; chr2:g.27311908_27311909insG (hg38)
• PubMed: PMID:19520594 ; PMID:22593919

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311913dup , CM000664.2:g.27311913dup	GRCh38
NC_000002.11:g.27534781dup , CM000664.1:g.27534781dup	GRCh37
NC_000002.10:g.27388285dup	NCBI36
NG_008075.1:g.15655dup
NG_033055.1:g.1354dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.451dup MANE Select	ENSP00000369383.1:p.Leu151ProfsTer?
ENST00000233545.6:c.451dup	ENSP00000233545.2:p.Leu151ProfsTer?
ENST00000357186.10:c.283dup	ENSP00000349713.6:p.Leu95ProfsTer?
ENST00000380044.5:c.451dup	ENSP00000369383.1:p.Leu151ProfsTer?
ENST00000402310.5:c.408+305dup	ENSP00000383955.1:n.408+305dup
ENST00000402722.5:c.*40+585dup	ENSP00000386000.1:n.*40+585dup
ENST00000403262.6:c.451dup	ENSP00000385671.1:p.Leu151ProfsTer18
ENST00000405076.5:c.262dup	ENSP00000385175.1:p.Leu88ProfsTer?
ENST00000405983.5:c.496dup	ENSP00000384586.1:p.Leu166ProfsTer?
ENST00000415514.5:c.*252dup	ENSP00000388043.1:n.*252dup
ENST00000426513.6:c.*116dup	ENSP00000403824.2:n.*116dup
ENST00000430991.5:c.285dup
ENST00000616707.1:n.1479dup
ENST00000620797.4:n.124dup
ENST00000621183.4:n.754dup
NM_002437.4:c.451dup	NP_002428.1:p.Leu151ProfsTer?
XM_005264326.2:c.451dup	XP_005264383.1:p.Leu151ProfsTer?
XM_005264327.2:c.292dup	XP_005264384.1:p.Leu98ProfsTer?
XM_006712021.2:c.403dup	XP_006712084.1:p.Leu135ProfsTer?
XM_005264326.4:c.451dup	XP_005264383.1:p.Leu151ProfsTer?
XM_006712021.3:c.403dup	XP_006712084.1:p.Leu135ProfsTer?
XM_017004150.1:c.433dup	XP_016859639.1:p.Leu145ProfsTer?
XM_017004151.1:c.403dup	XP_016859640.1:p.Leu135ProfsTer?
XM_017004152.1:c.292dup	XP_016859641.1:p.Leu98ProfsTer?
XM_024452913.1:c.403dup	XP_024308681.1:p.Leu135ProfsTer?
NM_002437.5:c.451dup MANE Select	NP_002428.1:p.Leu151ProfsTer?