Canonical Allele Identifier: CA531428344

Gene: MPV17

Linked Data

• dbSNP Id: rs1454303651
• gnomAD v2: 2-27532765-T-TG
• gnomAD v4: 2-27309897-T-TG
• MyVariant Identifiers: chr2:g.27532765_27532766insG (hg19) ; chr2:g.27309897_27309898insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309899dup , CM000664.2:g.27309899dup	GRCh38
NC_000002.11:g.27532767dup , CM000664.1:g.27532767dup	GRCh37
NC_000002.10:g.27386271dup	NCBI36
NG_008075.1:g.17666dup
NG_033055.1:g.3365dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.*14dup MANE Select	ENSP00000369383.1:n.*14dup
ENST00000233545.6:c.*14dup	ENSP00000233545.2:n.*14dup
ENST00000357186.10:c.*14dup	ENSP00000349713.6:n.*14dup
ENST00000380044.5:c.*14dup	ENSP00000369383.1:n.*14dup
ENST00000402310.5:c.492dup	ENSP00000383955.1:p.Ile165HisfsTer?
ENST00000402722.5:c.*124dup	ENSP00000386000.1:n.*124dup
ENST00000405076.5:c.*14dup	ENSP00000385175.1:n.*14dup
ENST00000405983.5:c.*14dup	ENSP00000384586.1:n.*14dup
ENST00000426513.6:c.*210dup	ENSP00000403824.2:n.*210dup
ENST00000430991.5:c.379dup
ENST00000620797.4:n.218dup
ENST00000621183.4:n.848dup
NM_002437.4:c.*14dup	NP_002428.1:n.*14dup
XM_005264326.2:c.*14dup	XP_005264383.1:n.*14dup
XM_005264327.2:c.*14dup	XP_005264384.1:n.*14dup
XM_006712021.2:c.*14dup	XP_006712084.1:n.*14dup
XM_005264326.4:c.*14dup	XP_005264383.1:n.*14dup
XM_006712021.3:c.*14dup	XP_006712084.1:n.*14dup
XM_017004150.1:c.*14dup	XP_016859639.1:n.*14dup
XM_017004151.1:c.*14dup	XP_016859640.1:n.*14dup
XM_017004152.1:c.*14dup	XP_016859641.1:n.*14dup
XM_024452913.1:c.*14dup	XP_024308681.1:n.*14dup
NM_002437.5:c.*14dup MANE Select	NP_002428.1:n.*14dup