Canonical Allele Identifier: CA346208288

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535446G>C (hg19) ; chr2:g.27312579G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312579G>C , CM000664.2:g.27312579G>C	GRCh38
NC_000002.11:g.27535446G>C , CM000664.1:g.27535446G>C	GRCh37
NC_000002.10:g.27388950G>C	NCBI36
NG_008075.1:g.14986C>G
NG_033055.1:g.685C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.290C>G MANE Select	ENSP00000369383.1:p.Ala97Gly
ENST00000233545.6:c.290C>G	ENSP00000233545.2:p.Ala97Gly
ENST00000357186.10:c.122C>G	ENSP00000349713.6:p.Ala41Gly
ENST00000380044.5:c.290C>G	ENSP00000369383.1:p.Ala97Gly
ENST00000402310.5:c.290C>G	ENSP00000383955.1:p.Ala97Gly
ENST00000402722.5:c.255C>G	ENSP00000386000.1:p.Cys85Trp
ENST00000403262.6:c.290C>G	ENSP00000385671.1:p.Ala97Gly
ENST00000405076.5:c.187-333C>G	ENSP00000385175.1:n.187-333C>G
ENST00000405983.5:c.335C>G	ENSP00000384586.1:p.Ala112Gly
ENST00000415514.5:c.*91C>G	ENSP00000388043.1:n.*91C>G
ENST00000426513.6:c.255C>G	ENSP00000403824.2:p.Cys85Trp
ENST00000428910.5:c.212C>G	ENSP00000405235.1:p.Ala71Gly
ENST00000430991.5:c.209+101C>G
ENST00000475085.1:n.318C>G
ENST00000616446.1:n.267C>G
ENST00000616707.1:n.809C>G
ENST00000617583.4:n.316C>G
ENST00000621183.4:n.346C>G
ENST00000621470.4:n.306C>G
ENST00000622003.4:n.463C>G
NM_002437.4:c.290C>G	NP_002428.1:p.Ala97Gly
XM_005264326.2:c.290C>G	XP_005264383.1:p.Ala97Gly
XM_005264327.2:c.131C>G	XP_005264384.1:p.Ala44Gly
XM_006712021.2:c.242C>G	XP_006712084.1:p.Ala81Gly
XM_005264326.4:c.290C>G	XP_005264383.1:p.Ala97Gly
XM_006712021.3:c.242C>G	XP_006712084.1:p.Ala81Gly
XM_017004150.1:c.272C>G	XP_016859639.1:p.Ala91Gly
XM_017004151.1:c.242C>G	XP_016859640.1:p.Ala81Gly
XM_017004152.1:c.131C>G	XP_016859641.1:p.Ala44Gly
XM_024452913.1:c.242C>G	XP_024308681.1:p.Ala81Gly
NM_002437.5:c.290C>G MANE Select	NP_002428.1:p.Ala97Gly