Canonical Allele Identifier: CA346209192

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535880G>C (hg19) ; chr2:g.27313013G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313013G>C , CM000664.2:g.27313013G>C	GRCh38
NC_000002.11:g.27535880G>C , CM000664.1:g.27535880G>C	GRCh37
NC_000002.10:g.27389384G>C	NCBI36
NG_008075.1:g.14552C>G
NG_033055.1:g.251C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.167C>G MANE Select	ENSP00000369383.1:p.Ser56Cys
ENST00000233545.6:c.167C>G	ENSP00000233545.2:p.Ser56Cys
ENST00000357186.10:c.19-241C>G	ENSP00000349713.6:n.19-241C>G
ENST00000380044.5:c.167C>G	ENSP00000369383.1:p.Ser56Cys
ENST00000402310.5:c.167C>G	ENSP00000383955.1:p.Ser56Cys
ENST00000402722.5:c.132C>G	ENSP00000386000.1:p.Val44=
ENST00000403262.6:c.167C>G	ENSP00000385671.1:p.Ser56Cys
ENST00000405076.5:c.167C>G	ENSP00000385175.1:p.Ser56Cys
ENST00000405983.5:c.212C>G	ENSP00000384586.1:p.Ser71Cys
ENST00000415514.5:c.228-241C>G	ENSP00000388043.1:n.228-241C>G
ENST00000426513.6:c.132C>G	ENSP00000403824.2:p.Val44=
ENST00000428910.5:c.89C>G	ENSP00000405235.1:p.Ser30Cys
ENST00000430991.5:c.97C>G
ENST00000616446.1:n.144C>G
ENST00000616707.1:n.375C>G
ENST00000617583.4:n.193C>G
ENST00000621183.4:n.223C>G
ENST00000621470.4:n.183C>G
ENST00000622003.4:n.340C>G
NM_002437.4:c.167C>G	NP_002428.1:p.Ser56Cys
XM_005264326.2:c.167C>G	XP_005264383.1:p.Ser56Cys
XM_005264327.2:c.8C>G	XP_005264384.1:p.Ser3Cys
XM_006712021.2:c.119C>G	XP_006712084.1:p.Ser40Cys
XM_005264326.4:c.167C>G	XP_005264383.1:p.Ser56Cys
XM_006712021.3:c.119C>G	XP_006712084.1:p.Ser40Cys
XM_017004150.1:c.149C>G	XP_016859639.1:p.Ser50Cys
XM_017004151.1:c.119C>G	XP_016859640.1:p.Ser40Cys
XM_017004152.1:c.8C>G	XP_016859641.1:p.Ser3Cys
XM_024452913.1:c.119C>G	XP_024308681.1:p.Ser40Cys
NM_002437.5:c.167C>G MANE Select	NP_002428.1:p.Ser56Cys