Canonical Allele Identifier: CA346161223

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27545380G>C (hg19) ; chr2:g.27322513G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322513G>C , CM000664.2:g.27322513G>C	GRCh38
NC_000002.11:g.27545380G>C , CM000664.1:g.27545380G>C	GRCh37
NC_000002.10:g.27398884G>C	NCBI36
NG_008075.1:g.5052C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.5C>G MANE Select	ENSP00000369383.1:p.Ala2Gly
ENST00000233545.6:c.5C>G	ENSP00000233545.2:p.Ala2Gly
ENST00000357186.10:c.18+1920C>G	ENSP00000349713.6:n.18+1920C>G
ENST00000380044.5:c.5C>G	ENSP00000369383.1:p.Ala2Gly
ENST00000399052.8:c.5C>G	ENSP00000382006.4:p.Ala2Gly
ENST00000402310.5:c.5C>G	ENSP00000383955.1:p.Ala2Gly
ENST00000402722.5:c.5C>G	ENSP00000386000.1:p.Ala2Gly
ENST00000403262.6:c.5C>G	ENSP00000385671.1:p.Ala2Gly
ENST00000405076.5:c.5C>G	ENSP00000385175.1:p.Ala2Gly
ENST00000405983.5:c.5C>G	ENSP00000384586.1:p.Ala2Gly
ENST00000415514.5:c.5C>G	ENSP00000388043.1:p.Ala2Gly
ENST00000426513.6:c.5C>G	ENSP00000403824.2:p.Ala2Gly
ENST00000428910.5:c.-198C>G	ENSP00000405235.1:n.-198C>G
ENST00000486898.1:n.56C>G
ENST00000494436.1:n.36C>G
ENST00000617583.4:n.31C>G
ENST00000621183.4:n.61C>G
ENST00000621470.4:n.56C>G
ENST00000622003.4:n.21C>G
NM_002437.4:c.5C>G	NP_002428.1:p.Ala2Gly
XM_005264326.2:c.5C>G	XP_005264383.1:p.Ala2Gly
XM_005264327.2:c.-120C>G	XP_005264384.1:n.-120C>G
XM_006712021.2:c.-201C>G	XP_006712084.1:n.-201C>G
XM_005264326.4:c.5C>G	XP_005264383.1:p.Ala2Gly
XM_006712021.3:c.-201C>G	XP_006712084.1:n.-201C>G
XM_017004150.1:c.-3248C>G	XP_016859639.1:n.-3248C>G
XM_017004151.1:c.-140C>G	XP_016859640.1:n.-140C>G
XM_017004152.1:c.-277C>G	XP_016859641.1:n.-277C>G
XM_024452913.1:c.-201C>G	XP_024308681.1:n.-201C>G
NM_002437.5:c.5C>G MANE Select	NP_002428.1:p.Ala2Gly