Canonical Allele Identifier: CA346205330

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532791G>C (hg19) ; chr2:g.27309923G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309923G>C , CM000664.2:g.27309923G>C	GRCh38
NC_000002.11:g.27532791G>C , CM000664.1:g.27532791G>C	GRCh37
NC_000002.10:g.27386295G>C	NCBI36
NG_008075.1:g.17641C>G
NG_033055.1:g.3340C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.520C>G MANE Select	ENSP00000369383.1:p.His174Asp
ENST00000233545.6:c.520C>G	ENSP00000233545.2:p.His174Asp
ENST00000357186.10:c.352C>G	ENSP00000349713.6:p.His118Asp
ENST00000380044.5:c.520C>G	ENSP00000369383.1:p.His174Asp
ENST00000402310.5:c.467C>G	ENSP00000383955.1:p.Thr156Arg
ENST00000402722.5:c.*99C>G	ENSP00000386000.1:n.*99C>G
ENST00000405076.5:c.331C>G	ENSP00000385175.1:p.His111Asp
ENST00000405983.5:c.565C>G	ENSP00000384586.1:p.His189Asp
ENST00000415514.5:c.*321C>G	ENSP00000388043.1:n.*321C>G
ENST00000426513.6:c.*185C>G	ENSP00000403824.2:n.*185C>G
ENST00000430991.5:c.354C>G
ENST00000620797.4:n.193C>G
ENST00000621183.4:n.823C>G
NM_002437.4:c.520C>G	NP_002428.1:p.His174Asp
XM_005264326.2:c.520C>G	XP_005264383.1:p.His174Asp
XM_005264327.2:c.361C>G	XP_005264384.1:p.His121Asp
XM_006712021.2:c.472C>G	XP_006712084.1:p.His158Asp
XM_005264326.4:c.520C>G	XP_005264383.1:p.His174Asp
XM_006712021.3:c.472C>G	XP_006712084.1:p.His158Asp
XM_017004150.1:c.502C>G	XP_016859639.1:p.His168Asp
XM_017004151.1:c.472C>G	XP_016859640.1:p.His158Asp
XM_017004152.1:c.361C>G	XP_016859641.1:p.His121Asp
XM_024452913.1:c.472C>G	XP_024308681.1:p.His158Asp
NM_002437.5:c.520C>G MANE Select	NP_002428.1:p.His174Asp