Canonical Allele Identifier: CA346207203

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27534793G>C (hg19) ; chr2:g.27311925G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311925G>C , CM000664.2:g.27311925G>C	GRCh38
NC_000002.11:g.27534793G>C , CM000664.1:g.27534793G>C	GRCh37
NC_000002.10:g.27388297G>C	NCBI36
NG_008075.1:g.15639C>G
NG_033055.1:g.1338C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.435C>G MANE Select	ENSP00000369383.1:p.Asn145Lys
ENST00000233545.6:c.435C>G	ENSP00000233545.2:p.Asn145Lys
ENST00000357186.10:c.267C>G	ENSP00000349713.6:p.Asn89Lys
ENST00000380044.5:c.435C>G	ENSP00000369383.1:p.Asn145Lys
ENST00000402310.5:c.408+289C>G	ENSP00000383955.1:n.408+289C>G
ENST00000402722.5:c.*40+569C>G	ENSP00000386000.1:n.*40+569C>G
ENST00000403262.6:c.435C>G	ENSP00000385671.1:p.Asn145Lys
ENST00000405076.5:c.246C>G	ENSP00000385175.1:p.Asn82Lys
ENST00000405983.5:c.480C>G	ENSP00000384586.1:p.Asn160Lys
ENST00000415514.5:c.*236C>G	ENSP00000388043.1:n.*236C>G
ENST00000426513.6:c.*100C>G	ENSP00000403824.2:n.*100C>G
ENST00000430991.5:c.269C>G
ENST00000616707.1:n.1463C>G
ENST00000620797.4:n.108C>G
ENST00000621183.4:n.738C>G
NM_002437.4:c.435C>G	NP_002428.1:p.Asn145Lys
XM_005264326.2:c.435C>G	XP_005264383.1:p.Asn145Lys
XM_005264327.2:c.276C>G	XP_005264384.1:p.Asn92Lys
XM_006712021.2:c.387C>G	XP_006712084.1:p.Asn129Lys
XM_005264326.4:c.435C>G	XP_005264383.1:p.Asn145Lys
XM_006712021.3:c.387C>G	XP_006712084.1:p.Asn129Lys
XM_017004150.1:c.417C>G	XP_016859639.1:p.Asn139Lys
XM_017004151.1:c.387C>G	XP_016859640.1:p.Asn129Lys
XM_017004152.1:c.276C>G	XP_016859641.1:p.Asn92Lys
XM_024452913.1:c.387C>G	XP_024308681.1:p.Asn129Lys
NM_002437.5:c.435C>G MANE Select	NP_002428.1:p.Asn145Lys