Canonical Allele Identifier: CA425394268

Gene: MPV17

Linked Data

• ClinVar Variation Id: 2188532
• ClinVar RCV Id: RCV002636562
• MyVariant Identifiers: chr2:g.27534796G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311928G>C , CM000664.2:g.27311928G>C	GRCh38
NC_000002.11:g.27534796G>C , CM000664.1:g.27534796G>C	GRCh37
NC_000002.10:g.27388300G>C	NCBI36
NG_008075.1:g.15636C>G
NG_033055.1:g.1335C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.432C>G MANE Select	ENSP00000369383.1:p.Ala144=
ENST00000233545.6:c.432C>G	ENSP00000233545.2:p.Ala144=
ENST00000357186.10:c.264C>G	ENSP00000349713.6:p.Ala88=
ENST00000380044.5:c.432C>G	ENSP00000369383.1:p.Ala144=
ENST00000402310.5:c.408+286C>G	ENSP00000383955.1:n.408+286C>G
ENST00000402722.5:c.*40+566C>G	ENSP00000386000.1:n.*40+566C>G
ENST00000403262.6:c.432C>G	ENSP00000385671.1:p.Ala144=
ENST00000405076.5:c.243C>G	ENSP00000385175.1:p.Ala81=
ENST00000405983.5:c.477C>G	ENSP00000384586.1:p.Ala159=
ENST00000415514.5:c.*233C>G	ENSP00000388043.1:n.*233C>G
ENST00000426513.6:c.*97C>G	ENSP00000403824.2:n.*97C>G
ENST00000430991.5:c.266C>G
ENST00000616707.1:n.1460C>G
ENST00000620797.4:n.105C>G
ENST00000621183.4:n.735C>G
NM_002437.4:c.432C>G	NP_002428.1:p.Ala144=
XM_005264326.2:c.432C>G	XP_005264383.1:p.Ala144=
XM_005264327.2:c.273C>G	XP_005264384.1:p.Ala91=
XM_006712021.2:c.384C>G	XP_006712084.1:p.Ala128=
XM_005264326.4:c.432C>G	XP_005264383.1:p.Ala144=
XM_006712021.3:c.384C>G	XP_006712084.1:p.Ala128=
XM_017004150.1:c.414C>G	XP_016859639.1:p.Ala138=
XM_017004151.1:c.384C>G	XP_016859640.1:p.Ala128=
XM_017004152.1:c.273C>G	XP_016859641.1:p.Ala91=
XM_024452913.1:c.384C>G	XP_024308681.1:p.Ala128=
NM_002437.5:c.432C>G MANE Select	NP_002428.1:p.Ala144=