Canonical Allele Identifier: CA9307629
Gene: MPV17L2 HGNC NCBI
COSMIC:
COSM4000571 (not active)
COSM4000572 (not active)
MyVariant.info:
GRCh38 chr19:g.18193890A>G
GRCh37 chr19:g.18304700A>G
Revel Score:
ENST00000534474 0.176
ENST00000247712 0.176
gnomAD v2:
19:18304700 A / G
gnomAD v3:
19:18193890 A / G
gnomAD v4:
chr19-18193890-A-G
Joint Max Group AF 0.33402867 (MID)
Genomes Max Group AF 0.27983043 (NFE)
Exomes Max Group AF 0.33454299 (MID)
ClinVar RCV:
RCV001671011
ClinVar Variation:
1258481
dbSNP:
874628
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18193890A>G , CM000681.2:g.18193890A>G GRCh38
NC_000019.9:g.18304700A>G , CM000681.1:g.18304700A>G GRCh37
NC_000019.8:g.18165700A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000599612.3:c.214A>G MANE Select ENSP00000469836.2:p.Met72Val
ENST00000532896.5:n.659A>G
ENST00000533807.3:n.641A>G
ENST00000534421.1:n.278A>G
ENST00000599612.2:c.214A>G ENSP00000469836.2:p.Met72Val
NM_032683.2:c.214A>G NP_116072.2:p.Met72Val
NM_032683.3:c.214A>G MANE Select NP_116072.2:p.Met72Val
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