Canonical Allele Identifier: CA346205581

Gene: MPV17

Linked Data

• gnomAD v4: 2-27309981-C-T
• MyVariant Identifiers: chr2:g.27532849C>T (hg19) ; chr2:g.27309981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309981C>T , CM000664.2:g.27309981C>T	GRCh38
NC_000002.11:g.27532849C>T , CM000664.1:g.27532849C>T	GRCh37
NC_000002.10:g.27386353C>T	NCBI36
NG_008075.1:g.17583G>A
NG_033055.1:g.3282G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.462G>A MANE Select	ENSP00000369383.1:p.Arg154=
ENST00000233545.6:c.462G>A	ENSP00000233545.2:p.Arg154=
ENST00000357186.10:c.294G>A	ENSP00000349713.6:p.Arg98=
ENST00000380044.5:c.462G>A	ENSP00000369383.1:p.Arg154=
ENST00000402310.5:c.409G>A	ENSP00000383955.1:p.Val137Ile
ENST00000402722.5:c.*41G>A	ENSP00000386000.1:n.*41G>A
ENST00000405076.5:c.273G>A	ENSP00000385175.1:p.Arg91=
ENST00000405983.5:c.507G>A	ENSP00000384586.1:p.Arg169=
ENST00000415514.5:c.*263G>A	ENSP00000388043.1:n.*263G>A
ENST00000426513.6:c.*127G>A	ENSP00000403824.2:n.*127G>A
ENST00000430991.5:c.296G>A
ENST00000620797.4:n.135G>A
ENST00000621183.4:n.765G>A
NM_002437.4:c.462G>A	NP_002428.1:p.Arg154=
XM_005264326.2:c.462G>A	XP_005264383.1:p.Arg154=
XM_005264327.2:c.303G>A	XP_005264384.1:p.Arg101=
XM_006712021.2:c.414G>A	XP_006712084.1:p.Arg138=
XM_005264326.4:c.462G>A	XP_005264383.1:p.Arg154=
XM_006712021.3:c.414G>A	XP_006712084.1:p.Arg138=
XM_017004150.1:c.444G>A	XP_016859639.1:p.Arg148=
XM_017004151.1:c.414G>A	XP_016859640.1:p.Arg138=
XM_017004152.1:c.303G>A	XP_016859641.1:p.Arg101=
XM_024452913.1:c.414G>A	XP_024308681.1:p.Arg138=
NM_002437.5:c.462G>A MANE Select	NP_002428.1:p.Arg154=