Canonical Allele Identifier: CA346207633
Gene: MPV17 HGNC NCBI

Linked Data

ClinVar Variation Id: 522375
ClinVar RCV Id: RCV000625519 RCV003727787
dbSNP Id: rs113055360
gnomAD v4: 2-27312248-T-G
MyVariant Identifiers: chr2:g.27535116T>G (hg19) chr2:g.27312248T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27312248T>G , CM000664.2:g.27312248T>G GRCh38
NC_000002.11:g.27535116T>G , CM000664.1:g.27535116T>G GRCh37
NC_000002.10:g.27388620T>G NCBI36
NG_008075.1:g.15316A>C
NG_033055.1:g.1015A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380044.6:c.376-2A>C MANE Select ENSP00000369383.1:n.376-2A>C
ENST00000233545.6:c.376-2A>C ENSP00000233545.2:n.376-2A>C
ENST00000357186.10:c.208-2A>C ENSP00000349713.6:n.208-2A>C
ENST00000380044.5:c.376-2A>C ENSP00000369383.1:n.376-2A>C
ENST00000402310.5:c.376-2A>C ENSP00000383955.1:n.376-2A>C
ENST00000402722.5:c.*40+246A>C ENSP00000386000.1:n.*40+246A>C
ENST00000403262.6:c.376-2A>C ENSP00000385671.1:n.376-2A>C
ENST00000405076.5:c.187-2A>C ENSP00000385175.1:n.187-2A>C
ENST00000405983.5:c.421-2A>C ENSP00000384586.1:n.421-2A>C
ENST00000415514.5:c.*177-2A>C ENSP00000388043.1:n.*177-2A>C
ENST00000426513.6:c.*41-2A>C ENSP00000403824.2:n.*41-2A>C
ENST00000428910.5:c.298-2A>C ENSP00000405235.1:n.298-2A>C
ENST00000430991.5:c.210-2A>C
ENST00000475085.1:n.404-2A>C
ENST00000616707.1:n.1140A>C
ENST00000617583.4:n.647A>C
ENST00000620797.4:n.49-2A>C
ENST00000621183.4:n.677A>C
ENST00000621470.4:n.637A>C
ENST00000622003.4:n.794A>C
NM_002437.4:c.376-2A>C NP_002428.1:n.376-2A>C
XM_005264326.2:c.376-2A>C XP_005264383.1:n.376-2A>C
XM_005264327.2:c.217-2A>C XP_005264384.1:n.217-2A>C
XM_006712021.2:c.328-2A>C XP_006712084.1:n.328-2A>C
XM_005264326.4:c.376-2A>C XP_005264383.1:n.376-2A>C
XM_006712021.3:c.328-2A>C XP_006712084.1:n.328-2A>C
XM_017004150.1:c.358-2A>C XP_016859639.1:n.358-2A>C
XM_017004151.1:c.328-2A>C XP_016859640.1:n.328-2A>C
XM_017004152.1:c.217-2A>C XP_016859641.1:n.217-2A>C
XM_024452913.1:c.328-2A>C XP_024308681.1:n.328-2A>C
NM_002437.5:c.376-2A>C MANE Select NP_002428.1:n.376-2A>C
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