Canonical Allele Identifier: CA9307564

Gene: MPV17L2

Linked Data

• ClinVar Variation Id: 585039
• ClinVar RCV Id: RCV000709789
• dbSNP Id: rs186786292
• ExAC: 19:18304123 G / A
• gnomAD v2: 19-18304123-G-A
• gnomAD v3: 19-18193313-G-A
• gnomAD v4: 19-18193313-G-A
• MyVariant Identifiers: chr19:g.18304123G>A (hg19) ; chr19:g.18193313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18193313G>A , CM000681.2:g.18193313G>A	GRCh38
NC_000019.9:g.18304123G>A , CM000681.1:g.18304123G>A	GRCh37
NC_000019.8:g.18165123G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599612.3:c.32G>A MANE Select	ENSP00000469836.2:p.Arg11His
ENST00000532896.5:n.82G>A
ENST00000533807.3:n.64G>A
ENST00000534421.1:n.96G>A
ENST00000599612.2:c.32G>A	ENSP00000469836.2:p.Arg11His
NM_032683.2:c.32G>A	NP_116072.2:p.Arg11His
NM_032683.3:c.32G>A MANE Select	NP_116072.2:p.Arg11His