Canonical Allele Identifier: CA346205332

Gene: MPV17

Linked Data

• ClinVar Variation Id: 1665671
• ClinVar RCV Id: RCV002193841
• dbSNP Id: rs2148212207
• MyVariant Identifiers: chr2:g.27532792T>C (hg19) ; chr2:g.27309924T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309924T>C , CM000664.2:g.27309924T>C	GRCh38
NC_000002.11:g.27532792T>C , CM000664.1:g.27532792T>C	GRCh37
NC_000002.10:g.27386296T>C	NCBI36
NG_008075.1:g.17640A>G
NG_033055.1:g.3339A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.519A>G MANE Select	ENSP00000369383.1:p.Ala173=
ENST00000233545.6:c.519A>G	ENSP00000233545.2:p.Ala173=
ENST00000357186.10:c.351A>G	ENSP00000349713.6:p.Ala117=
ENST00000380044.5:c.519A>G	ENSP00000369383.1:p.Ala173=
ENST00000402310.5:c.466A>G	ENSP00000383955.1:p.Thr156Ala
ENST00000402722.5:c.*98A>G	ENSP00000386000.1:n.*98A>G
ENST00000405076.5:c.330A>G	ENSP00000385175.1:p.Ala110=
ENST00000405983.5:c.564A>G	ENSP00000384586.1:p.Ala188=
ENST00000415514.5:c.*320A>G	ENSP00000388043.1:n.*320A>G
ENST00000426513.6:c.*184A>G	ENSP00000403824.2:n.*184A>G
ENST00000430991.5:c.353A>G
ENST00000620797.4:n.192A>G
ENST00000621183.4:n.822A>G
NM_002437.4:c.519A>G	NP_002428.1:p.Ala173=
XM_005264326.2:c.519A>G	XP_005264383.1:p.Ala173=
XM_005264327.2:c.360A>G	XP_005264384.1:p.Ala120=
XM_006712021.2:c.471A>G	XP_006712084.1:p.Ala157=
XM_005264326.4:c.519A>G	XP_005264383.1:p.Ala173=
XM_006712021.3:c.471A>G	XP_006712084.1:p.Ala157=
XM_017004150.1:c.501A>G	XP_016859639.1:p.Ala167=
XM_017004151.1:c.471A>G	XP_016859640.1:p.Ala157=
XM_017004152.1:c.360A>G	XP_016859641.1:p.Ala120=
XM_024452913.1:c.471A>G	XP_024308681.1:p.Ala157=
NM_002437.5:c.519A>G MANE Select	NP_002428.1:p.Ala173=