Canonical Allele Identifier: CA425394675

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535975C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313108C>A , CM000664.2:g.27313108C>A	GRCh38
NC_000002.11:g.27535975C>A , CM000664.1:g.27535975C>A	GRCh37
NC_000002.10:g.27389479C>A	NCBI36
NG_008075.1:g.14457G>T
NG_033055.1:g.156G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.72G>T MANE Select	ENSP00000369383.1:p.Gly24=
ENST00000233545.6:c.72G>T	ENSP00000233545.2:p.Gly24=
ENST00000357186.10:c.19-336G>T	ENSP00000349713.6:n.19-336G>T
ENST00000380044.5:c.72G>T	ENSP00000369383.1:p.Gly24=
ENST00000402310.5:c.72G>T	ENSP00000383955.1:p.Gly24=
ENST00000402722.5:c.71-34G>T	ENSP00000386000.1:n.71-34G>T
ENST00000403262.6:c.72G>T	ENSP00000385671.1:p.Gly24=
ENST00000405076.5:c.72G>T	ENSP00000385175.1:p.Gly24=
ENST00000405983.5:c.117G>T	ENSP00000384586.1:p.Gly39=
ENST00000415514.5:c.228-336G>T	ENSP00000388043.1:n.228-336G>T
ENST00000426513.6:c.71-34G>T	ENSP00000403824.2:n.71-34G>T
ENST00000428910.5:c.-7G>T	ENSP00000405235.1:n.-7G>T
ENST00000430991.5:c.2G>T
ENST00000616446.1:n.49G>T
ENST00000616707.1:n.280G>T
ENST00000617583.4:n.98G>T
ENST00000621183.4:n.128G>T
ENST00000621470.4:n.122-34G>T
ENST00000622003.4:n.245G>T
NM_002437.4:c.72G>T	NP_002428.1:p.Gly24=
XM_005264326.2:c.72G>T	XP_005264383.1:p.Gly24=
XM_005264327.2:c.-54-34G>T	XP_005264384.1:n.-54-34G>T
XM_006712021.2:c.24G>T	XP_006712084.1:p.Arg8Ser
XM_005264326.4:c.72G>T	XP_005264383.1:p.Gly24=
XM_006712021.3:c.24G>T	XP_006712084.1:p.Arg8Ser
XM_017004150.1:c.54G>T	XP_016859639.1:p.Gly18=
XM_017004151.1:c.24G>T	XP_016859640.1:p.Arg8Ser
XM_017004152.1:c.-54-34G>T	XP_016859641.1:n.-54-34G>T
XM_024452913.1:c.24G>T	XP_024308681.1:p.Arg8Ser
NM_002437.5:c.72G>T MANE Select	NP_002428.1:p.Gly24=