Canonical Allele Identifier: CA346205393

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532815T>C (hg19) ; chr2:g.27309947T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309947T>C , CM000664.2:g.27309947T>C	GRCh38
NC_000002.11:g.27532815T>C , CM000664.1:g.27532815T>C	GRCh37
NC_000002.10:g.27386319T>C	NCBI36
NG_008075.1:g.17617A>G
NG_033055.1:g.3316A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.496A>G MANE Select	ENSP00000369383.1:p.Asn166Asp
ENST00000233545.6:c.496A>G	ENSP00000233545.2:p.Asn166Asp
ENST00000357186.10:c.328A>G	ENSP00000349713.6:p.Asn110Asp
ENST00000380044.5:c.496A>G	ENSP00000369383.1:p.Asn166Asp
ENST00000402310.5:c.443A>G	ENSP00000383955.1:p.Glu148Gly
ENST00000402722.5:c.*75A>G	ENSP00000386000.1:n.*75A>G
ENST00000405076.5:c.307A>G	ENSP00000385175.1:p.Asn103Asp
ENST00000405983.5:c.541A>G	ENSP00000384586.1:p.Asn181Asp
ENST00000415514.5:c.*297A>G	ENSP00000388043.1:n.*297A>G
ENST00000426513.6:c.*161A>G	ENSP00000403824.2:n.*161A>G
ENST00000430991.5:c.330A>G
ENST00000620797.4:n.169A>G
ENST00000621183.4:n.799A>G
NM_002437.4:c.496A>G	NP_002428.1:p.Asn166Asp
XM_005264326.2:c.496A>G	XP_005264383.1:p.Asn166Asp
XM_005264327.2:c.337A>G	XP_005264384.1:p.Asn113Asp
XM_006712021.2:c.448A>G	XP_006712084.1:p.Asn150Asp
XM_005264326.4:c.496A>G	XP_005264383.1:p.Asn166Asp
XM_006712021.3:c.448A>G	XP_006712084.1:p.Asn150Asp
XM_017004150.1:c.478A>G	XP_016859639.1:p.Asn160Asp
XM_017004151.1:c.448A>G	XP_016859640.1:p.Asn150Asp
XM_017004152.1:c.337A>G	XP_016859641.1:p.Asn113Asp
XM_024452913.1:c.448A>G	XP_024308681.1:p.Asn150Asp
NM_002437.5:c.496A>G MANE Select	NP_002428.1:p.Asn166Asp