Canonical Allele Identifier: CA346205309

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532782A>G (hg19) ; chr2:g.27309914A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309914A>G , CM000664.2:g.27309914A>G	GRCh38
NC_000002.11:g.27532782A>G , CM000664.1:g.27532782A>G	GRCh37
NC_000002.10:g.27386286A>G	NCBI36
NG_008075.1:g.17650T>C
NG_033055.1:g.3349T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.529T>C MANE Select	ENSP00000369383.1:p.Ter177Gln
ENST00000233545.6:c.529T>C	ENSP00000233545.2:p.Ter177Gln
ENST00000357186.10:c.361T>C	ENSP00000349713.6:p.Ter121Gln
ENST00000380044.5:c.529T>C	ENSP00000369383.1:p.Ter177Gln
ENST00000402310.5:c.476T>C	ENSP00000383955.1:p.Leu159Pro
ENST00000402722.5:c.*108T>C	ENSP00000386000.1:n.*108T>C
ENST00000405076.5:c.340T>C	ENSP00000385175.1:p.Ter114Gln
ENST00000405983.5:c.574T>C	ENSP00000384586.1:p.Ter192Gln
ENST00000415514.5:c.*330T>C	ENSP00000388043.1:n.*330T>C
ENST00000426513.6:c.*194T>C	ENSP00000403824.2:n.*194T>C
ENST00000430991.5:c.363T>C
ENST00000620797.4:n.202T>C
ENST00000621183.4:n.832T>C
NM_002437.4:c.529T>C	NP_002428.1:p.Ter177Gln
XM_005264326.2:c.529T>C	XP_005264383.1:p.Ter177Gln
XM_005264327.2:c.370T>C	XP_005264384.1:p.Ter124Gln
XM_006712021.2:c.481T>C	XP_006712084.1:p.Ter161Gln
XM_005264326.4:c.529T>C	XP_005264383.1:p.Ter177Gln
XM_006712021.3:c.481T>C	XP_006712084.1:p.Ter161Gln
XM_017004150.1:c.511T>C	XP_016859639.1:p.Ter171Gln
XM_017004151.1:c.481T>C	XP_016859640.1:p.Ter161Gln
XM_017004152.1:c.370T>C	XP_016859641.1:p.Ter124Gln
XM_024452913.1:c.481T>C	XP_024308681.1:p.Ter161Gln
NM_002437.5:c.529T>C MANE Select	NP_002428.1:p.Ter177Gln