Canonical Allele Identifier: CA16044158

Gene: MPV17

Linked Data

• ClinVar Variation Id: 242902
• ClinVar RCV Id: RCV000416870 ; RCV003320355
• dbSNP Id: rs754051090
• gnomAD v4: 2-27313074-G-A
• MyVariant Identifiers: chr2:g.27535941G>A (hg19) ; chr2:g.27313074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313074G>A , CM000664.2:g.27313074G>A	GRCh38
NC_000002.11:g.27535941G>A , CM000664.1:g.27535941G>A	GRCh37
NC_000002.10:g.27389445G>A	NCBI36
NG_008075.1:g.14491C>T
NG_033055.1:g.190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.106C>T MANE Select	ENSP00000369383.1:p.Gln36Ter
ENST00000233545.6:c.106C>T	ENSP00000233545.2:p.Gln36Ter
ENST00000357186.10:c.19-302C>T	ENSP00000349713.6:n.19-302C>T
ENST00000380044.5:c.106C>T	ENSP00000369383.1:p.Gln36Ter
ENST00000402310.5:c.106C>T	ENSP00000383955.1:p.Gln36Ter
ENST00000402722.5:c.71C>T	ENSP00000386000.1:p.Ala24Val
ENST00000403262.6:c.106C>T	ENSP00000385671.1:p.Gln36Ter
ENST00000405076.5:c.106C>T	ENSP00000385175.1:p.Gln36Ter
ENST00000405983.5:c.151C>T	ENSP00000384586.1:p.Gln51Ter
ENST00000415514.5:c.228-302C>T	ENSP00000388043.1:n.228-302C>T
ENST00000426513.6:c.71C>T	ENSP00000403824.2:p.Ala24Val
ENST00000428910.5:c.28C>T	ENSP00000405235.1:p.Gln10Ter
ENST00000430991.5:c.36C>T
ENST00000616446.1:n.83C>T
ENST00000616707.1:n.314C>T
ENST00000617583.4:n.132C>T
ENST00000621183.4:n.162C>T
ENST00000621470.4:n.122C>T
ENST00000622003.4:n.279C>T
NM_002437.4:c.106C>T	NP_002428.1:p.Gln36Ter
XM_005264326.2:c.106C>T	XP_005264383.1:p.Gln36Ter
XM_005264327.2:c.-54C>T	XP_005264384.1:n.-54C>T
XM_006712021.2:c.58C>T	XP_006712084.1:p.Gln20Ter
XM_005264326.4:c.106C>T	XP_005264383.1:p.Gln36Ter
XM_006712021.3:c.58C>T	XP_006712084.1:p.Gln20Ter
XM_017004150.1:c.88C>T	XP_016859639.1:p.Gln30Ter
XM_017004151.1:c.58C>T	XP_016859640.1:p.Gln20Ter
XM_017004152.1:c.-54C>T	XP_016859641.1:n.-54C>T
XM_024452913.1:c.58C>T	XP_024308681.1:p.Gln20Ter
NM_002437.5:c.106C>T MANE Select	NP_002428.1:p.Gln36Ter