Canonical Allele Identifier: CA346209202

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535881A>T (hg19) ; chr2:g.27313014A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313014A>T , CM000664.2:g.27313014A>T	GRCh38
NC_000002.11:g.27535881A>T , CM000664.1:g.27535881A>T	GRCh37
NC_000002.10:g.27389385A>T	NCBI36
NG_008075.1:g.14551T>A
NG_033055.1:g.250T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.166T>A MANE Select	ENSP00000369383.1:p.Ser56Thr
ENST00000233545.6:c.166T>A	ENSP00000233545.2:p.Ser56Thr
ENST00000357186.10:c.19-242T>A	ENSP00000349713.6:n.19-242T>A
ENST00000380044.5:c.166T>A	ENSP00000369383.1:p.Ser56Thr
ENST00000402310.5:c.166T>A	ENSP00000383955.1:p.Ser56Thr
ENST00000402722.5:c.131T>A	ENSP00000386000.1:p.Val44Asp
ENST00000403262.6:c.166T>A	ENSP00000385671.1:p.Ser56Thr
ENST00000405076.5:c.166T>A	ENSP00000385175.1:p.Ser56Thr
ENST00000405983.5:c.211T>A	ENSP00000384586.1:p.Ser71Thr
ENST00000415514.5:c.228-242T>A	ENSP00000388043.1:n.228-242T>A
ENST00000426513.6:c.131T>A	ENSP00000403824.2:p.Val44Asp
ENST00000428910.5:c.88T>A	ENSP00000405235.1:p.Ser30Thr
ENST00000430991.5:c.96T>A
ENST00000616446.1:n.143T>A
ENST00000616707.1:n.374T>A
ENST00000617583.4:n.192T>A
ENST00000621183.4:n.222T>A
ENST00000621470.4:n.182T>A
ENST00000622003.4:n.339T>A
NM_002437.4:c.166T>A	NP_002428.1:p.Ser56Thr
XM_005264326.2:c.166T>A	XP_005264383.1:p.Ser56Thr
XM_005264327.2:c.7T>A	XP_005264384.1:p.Ser3Thr
XM_006712021.2:c.118T>A	XP_006712084.1:p.Ser40Thr
XM_005264326.4:c.166T>A	XP_005264383.1:p.Ser56Thr
XM_006712021.3:c.118T>A	XP_006712084.1:p.Ser40Thr
XM_017004150.1:c.148T>A	XP_016859639.1:p.Ser50Thr
XM_017004151.1:c.118T>A	XP_016859640.1:p.Ser40Thr
XM_017004152.1:c.7T>A	XP_016859641.1:p.Ser3Thr
XM_024452913.1:c.118T>A	XP_024308681.1:p.Ser40Thr
NM_002437.5:c.166T>A MANE Select	NP_002428.1:p.Ser56Thr