Canonical Allele Identifier: CA44518323

Gene: MPV17

Linked Data

• dbSNP Id: rs267607257
• MyVariant Identifiers: chr2:g.27535456C>A (hg19) ; chr2:g.27312589C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312589C>A , CM000664.2:g.27312589C>A	GRCh38
NC_000002.11:g.27535456C>A , CM000664.1:g.27535456C>A	GRCh37
NC_000002.10:g.27388960C>A	NCBI36
NG_008075.1:g.14976G>T
NG_033055.1:g.675G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.280G>T MANE Select	ENSP00000369383.1:p.Gly94Trp
ENST00000233545.6:c.280G>T	ENSP00000233545.2:p.Gly94Trp
ENST00000357186.10:c.112G>T	ENSP00000349713.6:p.Gly38Trp
ENST00000380044.5:c.280G>T	ENSP00000369383.1:p.Gly94Trp
ENST00000402310.5:c.280G>T	ENSP00000383955.1:p.Gly94Trp
ENST00000402722.5:c.245G>T	ENSP00000386000.1:p.Gly82Val
ENST00000403262.6:c.280G>T	ENSP00000385671.1:p.Gly94Trp
ENST00000405076.5:c.187-343G>T	ENSP00000385175.1:n.187-343G>T
ENST00000405983.5:c.325G>T	ENSP00000384586.1:p.Gly109Trp
ENST00000415514.5:c.*81G>T	ENSP00000388043.1:n.*81G>T
ENST00000426513.6:c.245G>T	ENSP00000403824.2:p.Gly82Val
ENST00000428910.5:c.202G>T	ENSP00000405235.1:p.Gly68Trp
ENST00000430991.5:c.209+91G>T
ENST00000475085.1:n.308G>T
ENST00000616446.1:n.257G>T
ENST00000616707.1:n.799G>T
ENST00000617583.4:n.306G>T
ENST00000621183.4:n.336G>T
ENST00000621470.4:n.296G>T
ENST00000622003.4:n.453G>T
NM_002437.4:c.280G>T	NP_002428.1:p.Gly94Trp
XM_005264326.2:c.280G>T	XP_005264383.1:p.Gly94Trp
XM_005264327.2:c.121G>T	XP_005264384.1:p.Gly41Trp
XM_006712021.2:c.232G>T	XP_006712084.1:p.Gly78Trp
XM_005264326.4:c.280G>T	XP_005264383.1:p.Gly94Trp
XM_006712021.3:c.232G>T	XP_006712084.1:p.Gly78Trp
XM_017004150.1:c.262G>T	XP_016859639.1:p.Gly88Trp
XM_017004151.1:c.232G>T	XP_016859640.1:p.Gly78Trp
XM_017004152.1:c.121G>T	XP_016859641.1:p.Gly41Trp
XM_024452913.1:c.232G>T	XP_024308681.1:p.Gly78Trp
NM_002437.5:c.280G>T MANE Select	NP_002428.1:p.Gly94Trp