Canonical Allele Identifier: CA346205464

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532833A>C (hg19) ; chr2:g.27309965A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309965A>C , CM000664.2:g.27309965A>C	GRCh38
NC_000002.11:g.27532833A>C , CM000664.1:g.27532833A>C	GRCh37
NC_000002.10:g.27386337A>C	NCBI36
NG_008075.1:g.17599T>G
NG_033055.1:g.3298T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.478T>G MANE Select	ENSP00000369383.1:p.Cys160Gly
ENST00000233545.6:c.478T>G	ENSP00000233545.2:p.Cys160Gly
ENST00000357186.10:c.310T>G	ENSP00000349713.6:p.Cys104Gly
ENST00000380044.5:c.478T>G	ENSP00000369383.1:p.Cys160Gly
ENST00000402310.5:c.425T>G	ENSP00000383955.1:p.Met142Arg
ENST00000402722.5:c.*57T>G	ENSP00000386000.1:n.*57T>G
ENST00000405076.5:c.289T>G	ENSP00000385175.1:p.Cys97Gly
ENST00000405983.5:c.523T>G	ENSP00000384586.1:p.Cys175Gly
ENST00000415514.5:c.*279T>G	ENSP00000388043.1:n.*279T>G
ENST00000426513.6:c.*143T>G	ENSP00000403824.2:n.*143T>G
ENST00000430991.5:c.312T>G
ENST00000620797.4:n.151T>G
ENST00000621183.4:n.781T>G
NM_002437.4:c.478T>G	NP_002428.1:p.Cys160Gly
XM_005264326.2:c.478T>G	XP_005264383.1:p.Cys160Gly
XM_005264327.2:c.319T>G	XP_005264384.1:p.Cys107Gly
XM_006712021.2:c.430T>G	XP_006712084.1:p.Cys144Gly
XM_005264326.4:c.478T>G	XP_005264383.1:p.Cys160Gly
XM_006712021.3:c.430T>G	XP_006712084.1:p.Cys144Gly
XM_017004150.1:c.460T>G	XP_016859639.1:p.Cys154Gly
XM_017004151.1:c.430T>G	XP_016859640.1:p.Cys144Gly
XM_017004152.1:c.319T>G	XP_016859641.1:p.Cys107Gly
XM_024452913.1:c.430T>G	XP_024308681.1:p.Cys144Gly
NM_002437.5:c.478T>G MANE Select	NP_002428.1:p.Cys160Gly