Canonical Allele Identifier: CA767382758

Gene: MPV17

Linked Data

• dbSNP Id: rs1485882223
• gnomAD v3: 2-27322780-A-C
• gnomAD v4: 2-27322780-A-C
• MyVariant Identifiers: chr2:g.27545647A>C (hg19) ; chr2:g.27322780A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322780A>C , CM000664.2:g.27322780A>C	GRCh38
NC_000002.11:g.27545647A>C , CM000664.1:g.27545647A>C	GRCh37
NC_000002.10:g.27399151A>C	NCBI36
NG_008075.1:g.4785T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-5-258T>G MANE Select	ENSP00000369383.1:n.-5-258T>G
ENST00000357186.10:c.18+1653T>G	ENSP00000349713.6:n.18+1653T>G
ENST00000380044.5:c.-5-258T>G	ENSP00000369383.1:n.-5-258T>G
ENST00000399052.8:c.-5-258T>G	ENSP00000382006.4:n.-5-258T>G
ENST00000402310.5:c.-5-258T>G	ENSP00000383955.1:n.-5-258T>G
ENST00000402722.5:c.-5-258T>G	ENSP00000386000.1:n.-5-258T>G
ENST00000403262.6:c.-5-258T>G	ENSP00000385671.1:n.-5-258T>G
ENST00000405076.5:c.-5-258T>G	ENSP00000385175.1:n.-5-258T>G
ENST00000405983.5:c.-5-258T>G	ENSP00000384586.1:n.-5-258T>G
ENST00000415514.5:c.-5-258T>G	ENSP00000388043.1:n.-5-258T>G
ENST00000426513.6:c.-5-258T>G	ENSP00000403824.2:n.-5-258T>G
ENST00000428910.5:c.-207-258T>G	ENSP00000405235.1:n.-207-258T>G
ENST00000486898.1:n.47-258T>G
ENST00000494436.1:n.27-258T>G
ENST00000617583.4:n.22-258T>G
ENST00000621183.4:n.52-258T>G
ENST00000621470.4:n.47-258T>G
ENST00000622003.4:n.12-258T>G
NM_002437.4:c.-5-258T>G	NP_002428.1:n.-5-258T>G
XM_005264326.2:c.-6+210T>G	XP_005264383.1:n.-6+210T>G
XM_005264327.2:c.-129-258T>G	XP_005264384.1:n.-129-258T>G
XM_006712021.2:c.-210-258T>G	XP_006712084.1:n.-210-258T>G
XM_005264326.4:c.-6+210T>G	XP_005264383.1:n.-6+210T>G
XM_006712021.3:c.-210-258T>G	XP_006712084.1:n.-210-258T>G
XM_017004150.1:c.-3257-258T>G	XP_016859639.1:n.-3257-258T>G
XM_024452913.1:c.-211+210T>G	XP_024308681.1:n.-211+210T>G
NM_002437.5:c.-5-258T>G MANE Select	NP_002428.1:n.-5-258T>G