Canonical Allele Identifier: CA346205388

Gene: MPV17

Linked Data

• gnomAD v4: 2-27309945-G-C
• MyVariant Identifiers: chr2:g.27532813G>C (hg19) ; chr2:g.27309945G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309945G>C , CM000664.2:g.27309945G>C	GRCh38
NC_000002.11:g.27532813G>C , CM000664.1:g.27532813G>C	GRCh37
NC_000002.10:g.27386317G>C	NCBI36
NG_008075.1:g.17619C>G
NG_033055.1:g.3318C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.498C>G MANE Select	ENSP00000369383.1:p.Asn166Lys
ENST00000233545.6:c.498C>G	ENSP00000233545.2:p.Asn166Lys
ENST00000357186.10:c.330C>G	ENSP00000349713.6:p.Asn110Lys
ENST00000380044.5:c.498C>G	ENSP00000369383.1:p.Asn166Lys
ENST00000402310.5:c.445C>G	ENSP00000383955.1:p.Leu149Val
ENST00000402722.5:c.*77C>G	ENSP00000386000.1:n.*77C>G
ENST00000405076.5:c.309C>G	ENSP00000385175.1:p.Asn103Lys
ENST00000405983.5:c.543C>G	ENSP00000384586.1:p.Asn181Lys
ENST00000415514.5:c.*299C>G	ENSP00000388043.1:n.*299C>G
ENST00000426513.6:c.*163C>G	ENSP00000403824.2:n.*163C>G
ENST00000430991.5:c.332C>G
ENST00000620797.4:n.171C>G
ENST00000621183.4:n.801C>G
NM_002437.4:c.498C>G	NP_002428.1:p.Asn166Lys
XM_005264326.2:c.498C>G	XP_005264383.1:p.Asn166Lys
XM_005264327.2:c.339C>G	XP_005264384.1:p.Asn113Lys
XM_006712021.2:c.450C>G	XP_006712084.1:p.Asn150Lys
XM_005264326.4:c.498C>G	XP_005264383.1:p.Asn166Lys
XM_006712021.3:c.450C>G	XP_006712084.1:p.Asn150Lys
XM_017004150.1:c.480C>G	XP_016859639.1:p.Asn160Lys
XM_017004151.1:c.450C>G	XP_016859640.1:p.Asn150Lys
XM_017004152.1:c.339C>G	XP_016859641.1:p.Asn113Lys
XM_024452913.1:c.450C>G	XP_024308681.1:p.Asn150Lys
NM_002437.5:c.498C>G MANE Select	NP_002428.1:p.Asn166Lys