Canonical Allele Identifier: CA346207869

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535378A>G (hg19) ; chr2:g.27312511A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312511A>G , CM000664.2:g.27312511A>G	GRCh38
NC_000002.11:g.27535378A>G , CM000664.1:g.27535378A>G	GRCh37
NC_000002.10:g.27388882A>G	NCBI36
NG_008075.1:g.15054T>C
NG_033055.1:g.753T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.358T>C MANE Select	ENSP00000369383.1:p.Trp120Arg
ENST00000233545.6:c.358T>C	ENSP00000233545.2:p.Trp120Arg
ENST00000357186.10:c.190T>C	ENSP00000349713.6:p.Trp64Arg
ENST00000380044.5:c.358T>C	ENSP00000369383.1:p.Trp120Arg
ENST00000402310.5:c.358T>C	ENSP00000383955.1:p.Trp120Arg
ENST00000402722.5:c.*23T>C	ENSP00000386000.1:n.*23T>C
ENST00000403262.6:c.358T>C	ENSP00000385671.1:p.Trp120Arg
ENST00000405076.5:c.187-265T>C	ENSP00000385175.1:n.187-265T>C
ENST00000405983.5:c.403T>C	ENSP00000384586.1:p.Trp135Arg
ENST00000415514.5:c.*159T>C	ENSP00000388043.1:n.*159T>C
ENST00000426513.6:c.*23T>C	ENSP00000403824.2:n.*23T>C
ENST00000428910.5:c.280T>C	ENSP00000405235.1:p.Trp94Arg
ENST00000430991.5:c.209+169T>C
ENST00000475085.1:n.386T>C
ENST00000616446.1:n.335T>C
ENST00000616707.1:n.877T>C
ENST00000617583.4:n.384T>C
ENST00000621183.4:n.414T>C
ENST00000621470.4:n.374T>C
ENST00000622003.4:n.531T>C
NM_002437.4:c.358T>C	NP_002428.1:p.Trp120Arg
XM_005264326.2:c.358T>C	XP_005264383.1:p.Trp120Arg
XM_005264327.2:c.199T>C	XP_005264384.1:p.Trp67Arg
XM_006712021.2:c.310T>C	XP_006712084.1:p.Trp104Arg
XM_005264326.4:c.358T>C	XP_005264383.1:p.Trp120Arg
XM_006712021.3:c.310T>C	XP_006712084.1:p.Trp104Arg
XM_017004150.1:c.340T>C	XP_016859639.1:p.Trp114Arg
XM_017004151.1:c.310T>C	XP_016859640.1:p.Trp104Arg
XM_017004152.1:c.199T>C	XP_016859641.1:p.Trp67Arg
XM_024452913.1:c.310T>C	XP_024308681.1:p.Trp104Arg
NM_002437.5:c.358T>C MANE Select	NP_002428.1:p.Trp120Arg