Canonical Allele Identifier: CA346208000

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535402T>C (hg19) ; chr2:g.27312535T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312535T>C , CM000664.2:g.27312535T>C	GRCh38
NC_000002.11:g.27535402T>C , CM000664.1:g.27535402T>C	GRCh37
NC_000002.10:g.27388906T>C	NCBI36
NG_008075.1:g.15030A>G
NG_033055.1:g.729A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.334A>G MANE Select	ENSP00000369383.1:p.Asn112Asp
ENST00000233545.6:c.334A>G	ENSP00000233545.2:p.Asn112Asp
ENST00000357186.10:c.166A>G	ENSP00000349713.6:p.Asn56Asp
ENST00000380044.5:c.334A>G	ENSP00000369383.1:p.Asn112Asp
ENST00000402310.5:c.334A>G	ENSP00000383955.1:p.Asn112Asp
ENST00000402722.5:c.299A>G	ENSP00000386000.1:p.Ter100=
ENST00000403262.6:c.334A>G	ENSP00000385671.1:p.Asn112Asp
ENST00000405076.5:c.187-289A>G	ENSP00000385175.1:n.187-289A>G
ENST00000405983.5:c.379A>G	ENSP00000384586.1:p.Asn127Asp
ENST00000415514.5:c.*135A>G	ENSP00000388043.1:n.*135A>G
ENST00000426513.6:c.299A>G	ENSP00000403824.2:p.Ter100=
ENST00000428910.5:c.256A>G	ENSP00000405235.1:p.Asn86Asp
ENST00000430991.5:c.209+145A>G
ENST00000475085.1:n.362A>G
ENST00000616446.1:n.311A>G
ENST00000616707.1:n.853A>G
ENST00000617583.4:n.360A>G
ENST00000621183.4:n.390A>G
ENST00000621470.4:n.350A>G
ENST00000622003.4:n.507A>G
NM_002437.4:c.334A>G	NP_002428.1:p.Asn112Asp
XM_005264326.2:c.334A>G	XP_005264383.1:p.Asn112Asp
XM_005264327.2:c.175A>G	XP_005264384.1:p.Asn59Asp
XM_006712021.2:c.286A>G	XP_006712084.1:p.Asn96Asp
XM_005264326.4:c.334A>G	XP_005264383.1:p.Asn112Asp
XM_006712021.3:c.286A>G	XP_006712084.1:p.Asn96Asp
XM_017004150.1:c.316A>G	XP_016859639.1:p.Asn106Asp
XM_017004151.1:c.286A>G	XP_016859640.1:p.Asn96Asp
XM_017004152.1:c.175A>G	XP_016859641.1:p.Asn59Asp
XM_024452913.1:c.286A>G	XP_024308681.1:p.Asn96Asp
NM_002437.5:c.334A>G MANE Select	NP_002428.1:p.Asn112Asp