Canonical Allele Identifier: CA346205417

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532823A>C (hg19) ; chr2:g.27309955A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309955A>C , CM000664.2:g.27309955A>C	GRCh38
NC_000002.11:g.27532823A>C , CM000664.1:g.27532823A>C	GRCh37
NC_000002.10:g.27386327A>C	NCBI36
NG_008075.1:g.17609T>G
NG_033055.1:g.3308T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.488T>G MANE Select	ENSP00000369383.1:p.Val163Gly
ENST00000233545.6:c.488T>G	ENSP00000233545.2:p.Val163Gly
ENST00000357186.10:c.320T>G	ENSP00000349713.6:p.Val107Gly
ENST00000380044.5:c.488T>G	ENSP00000369383.1:p.Val163Gly
ENST00000402310.5:c.435T>G	ENSP00000383955.1:p.Cys145Trp
ENST00000402722.5:c.*67T>G	ENSP00000386000.1:n.*67T>G
ENST00000405076.5:c.299T>G	ENSP00000385175.1:p.Val100Gly
ENST00000405983.5:c.533T>G	ENSP00000384586.1:p.Val178Gly
ENST00000415514.5:c.*289T>G	ENSP00000388043.1:n.*289T>G
ENST00000426513.6:c.*153T>G	ENSP00000403824.2:n.*153T>G
ENST00000430991.5:c.322T>G
ENST00000620797.4:n.161T>G
ENST00000621183.4:n.791T>G
NM_002437.4:c.488T>G	NP_002428.1:p.Val163Gly
XM_005264326.2:c.488T>G	XP_005264383.1:p.Val163Gly
XM_005264327.2:c.329T>G	XP_005264384.1:p.Val110Gly
XM_006712021.2:c.440T>G	XP_006712084.1:p.Val147Gly
XM_005264326.4:c.488T>G	XP_005264383.1:p.Val163Gly
XM_006712021.3:c.440T>G	XP_006712084.1:p.Val147Gly
XM_017004150.1:c.470T>G	XP_016859639.1:p.Val157Gly
XM_017004151.1:c.440T>G	XP_016859640.1:p.Val147Gly
XM_017004152.1:c.329T>G	XP_016859641.1:p.Val110Gly
XM_024452913.1:c.440T>G	XP_024308681.1:p.Val147Gly
NM_002437.5:c.488T>G MANE Select	NP_002428.1:p.Val163Gly