Canonical Allele Identifier: CA425394405

Gene: MPV17

Linked Data

• gnomAD v4: 2-27312503-T-C
• MyVariant Identifiers: chr2:g.27535370T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312503T>C , CM000664.2:g.27312503T>C	GRCh38
NC_000002.11:g.27535370T>C , CM000664.1:g.27535370T>C	GRCh37
NC_000002.10:g.27388874T>C	NCBI36
NG_008075.1:g.15062A>G
NG_033055.1:g.761A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.366A>G MANE Select	ENSP00000369383.1:p.Lys122=
ENST00000233545.6:c.366A>G	ENSP00000233545.2:p.Lys122=
ENST00000357186.10:c.198A>G	ENSP00000349713.6:p.Lys66=
ENST00000380044.5:c.366A>G	ENSP00000369383.1:p.Lys122=
ENST00000402310.5:c.366A>G	ENSP00000383955.1:p.Lys122=
ENST00000402722.5:c.*31A>G	ENSP00000386000.1:n.*31A>G
ENST00000403262.6:c.366A>G	ENSP00000385671.1:p.Lys122=
ENST00000405076.5:c.187-257A>G	ENSP00000385175.1:n.187-257A>G
ENST00000405983.5:c.411A>G	ENSP00000384586.1:p.Lys137=
ENST00000415514.5:c.*167A>G	ENSP00000388043.1:n.*167A>G
ENST00000426513.6:c.*31A>G	ENSP00000403824.2:n.*31A>G
ENST00000428910.5:c.288A>G	ENSP00000405235.1:p.Lys96=
ENST00000430991.5:c.209+177A>G
ENST00000475085.1:n.394A>G
ENST00000616446.1:n.343A>G
ENST00000616707.1:n.885A>G
ENST00000617583.4:n.392A>G
ENST00000621183.4:n.422A>G
ENST00000621470.4:n.382A>G
ENST00000622003.4:n.539A>G
NM_002437.4:c.366A>G	NP_002428.1:p.Lys122=
XM_005264326.2:c.366A>G	XP_005264383.1:p.Lys122=
XM_005264327.2:c.207A>G	XP_005264384.1:p.Lys69=
XM_006712021.2:c.318A>G	XP_006712084.1:p.Lys106=
XM_005264326.4:c.366A>G	XP_005264383.1:p.Lys122=
XM_006712021.3:c.318A>G	XP_006712084.1:p.Lys106=
XM_017004150.1:c.348A>G	XP_016859639.1:p.Lys116=
XM_017004151.1:c.318A>G	XP_016859640.1:p.Lys106=
XM_017004152.1:c.207A>G	XP_016859641.1:p.Lys69=
XM_024452913.1:c.318A>G	XP_024308681.1:p.Lys106=
NM_002437.5:c.366A>G MANE Select	NP_002428.1:p.Lys122=