Canonical Allele Identifier: CA346161106

Gene: MPV17

Linked Data

• ClinVar Variation Id: 964822
• ClinVar RCV Id: RCV001239130 ; RCV003469449
• dbSNP Id: rs1679897519
• MyVariant Identifiers: chr2:g.27545363G>A (hg19) ; chr2:g.27322496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322496G>A , CM000664.2:g.27322496G>A	GRCh38
NC_000002.11:g.27545363G>A , CM000664.1:g.27545363G>A	GRCh37
NC_000002.10:g.27398867G>A	NCBI36
NG_008075.1:g.5069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.22C>T MANE Select	ENSP00000369383.1:p.Gln8Ter
ENST00000233545.6:c.22C>T	ENSP00000233545.2:p.Gln8Ter
ENST00000357186.10:c.18+1937C>T	ENSP00000349713.6:n.18+1937C>T
ENST00000380044.5:c.22C>T	ENSP00000369383.1:p.Gln8Ter
ENST00000399052.8:c.22C>T	ENSP00000382006.4:p.Gln8Ter
ENST00000402310.5:c.22C>T	ENSP00000383955.1:p.Gln8Ter
ENST00000402722.5:c.22C>T	ENSP00000386000.1:p.Gln8Ter
ENST00000403262.6:c.22C>T	ENSP00000385671.1:p.Gln8Ter
ENST00000405076.5:c.22C>T	ENSP00000385175.1:p.Gln8Ter
ENST00000405983.5:c.22C>T	ENSP00000384586.1:p.Gln8Ter
ENST00000415514.5:c.22C>T	ENSP00000388043.1:p.Gln8Ter
ENST00000426513.6:c.22C>T	ENSP00000403824.2:p.Gln8Ter
ENST00000428910.5:c.-181C>T	ENSP00000405235.1:n.-181C>T
ENST00000486898.1:n.73C>T
ENST00000494436.1:n.53C>T
ENST00000617583.4:n.48C>T
ENST00000621183.4:n.78C>T
ENST00000621470.4:n.73C>T
ENST00000622003.4:n.38C>T
NM_002437.4:c.22C>T	NP_002428.1:p.Gln8Ter
XM_005264326.2:c.22C>T	XP_005264383.1:p.Gln8Ter
XM_005264327.2:c.-103C>T	XP_005264384.1:n.-103C>T
XM_006712021.2:c.-184C>T	XP_006712084.1:n.-184C>T
XM_005264326.4:c.22C>T	XP_005264383.1:p.Gln8Ter
XM_006712021.3:c.-184C>T	XP_006712084.1:n.-184C>T
XM_017004150.1:c.-3231C>T	XP_016859639.1:n.-3231C>T
XM_017004151.1:c.-123C>T	XP_016859640.1:n.-123C>T
XM_017004152.1:c.-260C>T	XP_016859641.1:n.-260C>T
XM_024452913.1:c.-184C>T	XP_024308681.1:n.-184C>T
NM_002437.5:c.22C>T MANE Select	NP_002428.1:p.Gln8Ter