Canonical Allele Identifier: CA346205271

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532764A>C (hg19) ; chr2:g.27309896A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309896A>C , CM000664.2:g.27309896A>C	GRCh38
NC_000002.11:g.27532764A>C , CM000664.1:g.27532764A>C	GRCh37
NC_000002.10:g.27386268A>C	NCBI36
NG_008075.1:g.17668T>G
NG_033055.1:g.3367T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.*16T>G MANE Select	ENSP00000369383.1:n.*16T>G
ENST00000233545.6:c.*16T>G	ENSP00000233545.2:n.*16T>G
ENST00000357186.10:c.*16T>G	ENSP00000349713.6:n.*16T>G
ENST00000380044.5:c.*16T>G	ENSP00000369383.1:n.*16T>G
ENST00000402310.5:c.494T>G	ENSP00000383955.1:p.Ile165Ser
ENST00000402722.5:c.*126T>G	ENSP00000386000.1:n.*126T>G
ENST00000405076.5:c.*16T>G	ENSP00000385175.1:n.*16T>G
ENST00000405983.5:c.*16T>G	ENSP00000384586.1:n.*16T>G
ENST00000426513.6:c.*212T>G	ENSP00000403824.2:n.*212T>G
ENST00000430991.5:c.381T>G
ENST00000620797.4:n.220T>G
ENST00000621183.4:n.850T>G
NM_002437.4:c.*16T>G	NP_002428.1:n.*16T>G
XM_005264326.2:c.*16T>G	XP_005264383.1:n.*16T>G
XM_005264327.2:c.*16T>G	XP_005264384.1:n.*16T>G
XM_006712021.2:c.*16T>G	XP_006712084.1:n.*16T>G
XM_005264326.4:c.*16T>G	XP_005264383.1:n.*16T>G
XM_006712021.3:c.*16T>G	XP_006712084.1:n.*16T>G
XM_017004150.1:c.*16T>G	XP_016859639.1:n.*16T>G
XM_017004151.1:c.*16T>G	XP_016859640.1:n.*16T>G
XM_017004152.1:c.*16T>G	XP_016859641.1:n.*16T>G
XM_024452913.1:c.*16T>G	XP_024308681.1:n.*16T>G
NM_002437.5:c.*16T>G MANE Select	NP_002428.1:n.*16T>G