Canonical Allele Identifier: CA346209137

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535869C>G (hg19) ; chr2:g.27313002C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313002C>G , CM000664.2:g.27313002C>G	GRCh38
NC_000002.11:g.27535869C>G , CM000664.1:g.27535869C>G	GRCh37
NC_000002.10:g.27389373C>G	NCBI36
NG_008075.1:g.14563G>C
NG_033055.1:g.262G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.178G>C MANE Select	ENSP00000369383.1:p.Gly60Arg
ENST00000233545.6:c.178G>C	ENSP00000233545.2:p.Gly60Arg
ENST00000357186.10:c.19-230G>C	ENSP00000349713.6:n.19-230G>C
ENST00000380044.5:c.178G>C	ENSP00000369383.1:p.Gly60Arg
ENST00000402310.5:c.178G>C	ENSP00000383955.1:p.Gly60Arg
ENST00000402722.5:c.143G>C	ENSP00000386000.1:p.Trp48Ser
ENST00000403262.6:c.178G>C	ENSP00000385671.1:p.Gly60Arg
ENST00000405076.5:c.178G>C	ENSP00000385175.1:p.Gly60Arg
ENST00000405983.5:c.223G>C	ENSP00000384586.1:p.Gly75Arg
ENST00000415514.5:c.228-230G>C	ENSP00000388043.1:n.228-230G>C
ENST00000426513.6:c.143G>C	ENSP00000403824.2:p.Trp48Ser
ENST00000428910.5:c.100G>C	ENSP00000405235.1:p.Gly34Arg
ENST00000430991.5:c.108G>C
ENST00000616446.1:n.155G>C
ENST00000616707.1:n.386G>C
ENST00000617583.4:n.204G>C
ENST00000621183.4:n.234G>C
ENST00000621470.4:n.194G>C
ENST00000622003.4:n.351G>C
NM_002437.4:c.178G>C	NP_002428.1:p.Gly60Arg
XM_005264326.2:c.178G>C	XP_005264383.1:p.Gly60Arg
XM_005264327.2:c.19G>C	XP_005264384.1:p.Gly7Arg
XM_006712021.2:c.130G>C	XP_006712084.1:p.Gly44Arg
XM_005264326.4:c.178G>C	XP_005264383.1:p.Gly60Arg
XM_006712021.3:c.130G>C	XP_006712084.1:p.Gly44Arg
XM_017004150.1:c.160G>C	XP_016859639.1:p.Gly54Arg
XM_017004151.1:c.130G>C	XP_016859640.1:p.Gly44Arg
XM_017004152.1:c.19G>C	XP_016859641.1:p.Gly7Arg
XM_024452913.1:c.130G>C	XP_024308681.1:p.Gly44Arg
NM_002437.5:c.178G>C MANE Select	NP_002428.1:p.Gly60Arg