Canonical Allele Identifier: CA346160672

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27545315C>G (hg19) ; chr2:g.27322448C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322448C>G , CM000664.2:g.27322448C>G	GRCh38
NC_000002.11:g.27545315C>G , CM000664.1:g.27545315C>G	GRCh37
NC_000002.10:g.27398819C>G	NCBI36
NG_008075.1:g.5117G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.70G>C MANE Select	ENSP00000369383.1:p.Gly24Arg
ENST00000233545.6:c.70G>C	ENSP00000233545.2:p.Gly24Arg
ENST00000357186.10:c.18+1985G>C	ENSP00000349713.6:n.18+1985G>C
ENST00000380044.5:c.70G>C	ENSP00000369383.1:p.Gly24Arg
ENST00000399052.8:c.70G>C	ENSP00000382006.4:p.Asp24His
ENST00000402310.5:c.70G>C	ENSP00000383955.1:p.Gly24Arg
ENST00000402722.5:c.70G>C	ENSP00000386000.1:p.Ala24Pro
ENST00000403262.6:c.70G>C	ENSP00000385671.1:p.Gly24Arg
ENST00000405076.5:c.70G>C	ENSP00000385175.1:p.Gly24Arg
ENST00000405983.5:c.70G>C	ENSP00000384586.1:p.Ala24Pro
ENST00000415514.5:c.70G>C	ENSP00000388043.1:p.Asp24His
ENST00000426513.6:c.70G>C	ENSP00000403824.2:p.Ala24Pro
ENST00000428910.5:c.-133G>C	ENSP00000405235.1:n.-133G>C
ENST00000486898.1:n.121G>C
ENST00000494436.1:n.101G>C
ENST00000617583.4:n.96G>C
ENST00000621183.4:n.126G>C
ENST00000621470.4:n.121G>C
ENST00000622003.4:n.86G>C
NM_002437.4:c.70G>C	NP_002428.1:p.Gly24Arg
XM_005264326.2:c.70G>C	XP_005264383.1:p.Gly24Arg
XM_005264327.2:c.-55G>C	XP_005264384.1:n.-55G>C
XM_006712021.2:c.-136G>C	XP_006712084.1:n.-136G>C
XM_005264326.4:c.70G>C	XP_005264383.1:p.Gly24Arg
XM_006712021.3:c.-136G>C	XP_006712084.1:n.-136G>C
XM_017004150.1:c.-3183G>C	XP_016859639.1:n.-3183G>C
XM_017004151.1:c.-75G>C	XP_016859640.1:n.-75G>C
XM_017004152.1:c.-212G>C	XP_016859641.1:n.-212G>C
XM_024452913.1:c.-136G>C	XP_024308681.1:n.-136G>C
NM_002437.5:c.70G>C MANE Select	NP_002428.1:p.Gly24Arg