Canonical Allele Identifier: CA44518884

Gene: MPV17

Linked Data

• dbSNP Id: rs911599759
• gnomAD v2: 2-27535927-C-A
• gnomAD v3: 2-27313060-C-A
• gnomAD v4: 2-27313060-C-A
• MyVariant Identifiers: chr2:g.27535927C>A (hg19) ; chr2:g.27313060C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313060C>A , CM000664.2:g.27313060C>A	GRCh38
NC_000002.11:g.27535927C>A , CM000664.1:g.27535927C>A	GRCh37
NC_000002.10:g.27389431C>A	NCBI36
NG_008075.1:g.14505G>T
NG_033055.1:g.204G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.120G>T MANE Select	ENSP00000369383.1:p.Arg40Ser
ENST00000233545.6:c.120G>T	ENSP00000233545.2:p.Arg40Ser
ENST00000357186.10:c.19-288G>T	ENSP00000349713.6:n.19-288G>T
ENST00000380044.5:c.120G>T	ENSP00000369383.1:p.Arg40Ser
ENST00000402310.5:c.120G>T	ENSP00000383955.1:p.Arg40Ser
ENST00000402722.5:c.85G>T	ENSP00000386000.1:p.Ala29Ser
ENST00000403262.6:c.120G>T	ENSP00000385671.1:p.Arg40Ser
ENST00000405076.5:c.120G>T	ENSP00000385175.1:p.Arg40Ser
ENST00000405983.5:c.165G>T	ENSP00000384586.1:p.Arg55Ser
ENST00000415514.5:c.228-288G>T	ENSP00000388043.1:n.228-288G>T
ENST00000426513.6:c.85G>T	ENSP00000403824.2:p.Ala29Ser
ENST00000428910.5:c.42G>T	ENSP00000405235.1:p.Arg14Ser
ENST00000430991.5:c.50G>T
ENST00000616446.1:n.97G>T
ENST00000616707.1:n.328G>T
ENST00000617583.4:n.146G>T
ENST00000621183.4:n.176G>T
ENST00000621470.4:n.136G>T
ENST00000622003.4:n.293G>T
NM_002437.4:c.120G>T	NP_002428.1:p.Arg40Ser
XM_005264326.2:c.120G>T	XP_005264383.1:p.Arg40Ser
XM_005264327.2:c.-40G>T	XP_005264384.1:n.-40G>T
XM_006712021.2:c.72G>T	XP_006712084.1:p.Arg24Ser
XM_005264326.4:c.120G>T	XP_005264383.1:p.Arg40Ser
XM_006712021.3:c.72G>T	XP_006712084.1:p.Arg24Ser
XM_017004150.1:c.102G>T	XP_016859639.1:p.Arg34Ser
XM_017004151.1:c.72G>T	XP_016859640.1:p.Arg24Ser
XM_017004152.1:c.-40G>T	XP_016859641.1:n.-40G>T
XM_024452913.1:c.72G>T	XP_024308681.1:p.Arg24Ser
NM_002437.5:c.120G>T MANE Select	NP_002428.1:p.Arg40Ser