Canonical Allele Identifier: CA346208540

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535563T>C (hg19) ; chr2:g.27312696T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312696T>C , CM000664.2:g.27312696T>C	GRCh38
NC_000002.11:g.27535563T>C , CM000664.1:g.27535563T>C	GRCh37
NC_000002.10:g.27389067T>C	NCBI36
NG_008075.1:g.14869A>G
NG_033055.1:g.568A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.263A>G MANE Select	ENSP00000369383.1:p.Lys88Arg
ENST00000233545.6:c.263A>G	ENSP00000233545.2:p.Lys88Arg
ENST00000357186.10:c.95A>G	ENSP00000349713.6:p.Lys32Arg
ENST00000380044.5:c.263A>G	ENSP00000369383.1:p.Lys88Arg
ENST00000402310.5:c.263A>G	ENSP00000383955.1:p.Lys88Arg
ENST00000402722.5:c.228A>G	ENSP00000386000.1:p.Glu76=
ENST00000403262.6:c.263A>G	ENSP00000385671.1:p.Lys88Arg
ENST00000405076.5:c.186+298A>G	ENSP00000385175.1:n.186+298A>G
ENST00000405983.5:c.308A>G	ENSP00000384586.1:p.Lys103Arg
ENST00000415514.5:c.*64A>G	ENSP00000388043.1:n.*64A>G
ENST00000426513.6:c.228A>G	ENSP00000403824.2:p.Glu76=
ENST00000428910.5:c.185A>G	ENSP00000405235.1:p.Lys62Arg
ENST00000430991.5:c.193A>G
ENST00000475085.1:n.291A>G
ENST00000616446.1:n.240A>G
ENST00000616707.1:n.692A>G
ENST00000617583.4:n.289A>G
ENST00000621183.4:n.319A>G
ENST00000621470.4:n.279A>G
ENST00000622003.4:n.436A>G
NM_002437.4:c.263A>G	NP_002428.1:p.Lys88Arg
XM_005264326.2:c.263A>G	XP_005264383.1:p.Lys88Arg
XM_005264327.2:c.104A>G	XP_005264384.1:p.Lys35Arg
XM_006712021.2:c.215A>G	XP_006712084.1:p.Lys72Arg
XM_005264326.4:c.263A>G	XP_005264383.1:p.Lys88Arg
XM_006712021.3:c.215A>G	XP_006712084.1:p.Lys72Arg
XM_017004150.1:c.245A>G	XP_016859639.1:p.Lys82Arg
XM_017004151.1:c.215A>G	XP_016859640.1:p.Lys72Arg
XM_017004152.1:c.104A>G	XP_016859641.1:p.Lys35Arg
XM_024452913.1:c.215A>G	XP_024308681.1:p.Lys72Arg
NM_002437.5:c.263A>G MANE Select	NP_002428.1:p.Lys88Arg