Canonical Allele Identifier: CA531428352

Gene: MPV17

Linked Data

• dbSNP Id: rs1203108682
• gnomAD v2: 2-27532777-G-A
• gnomAD v4: 2-27309909-G-A
• MyVariant Identifiers: chr2:g.27532777G>A (hg19) ; chr2:g.27309909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309909G>A , CM000664.2:g.27309909G>A	GRCh38
NC_000002.11:g.27532777G>A , CM000664.1:g.27532777G>A	GRCh37
NC_000002.10:g.27386281G>A	NCBI36
NG_008075.1:g.17655C>T
NG_033055.1:g.3354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.*3C>T MANE Select	ENSP00000369383.1:n.*3C>T
ENST00000233545.6:c.*3C>T	ENSP00000233545.2:n.*3C>T
ENST00000357186.10:c.*3C>T	ENSP00000349713.6:n.*3C>T
ENST00000380044.5:c.*3C>T	ENSP00000369383.1:n.*3C>T
ENST00000402310.5:c.481C>T	ENSP00000383955.1:p.Leu161=
ENST00000402722.5:c.*113C>T	ENSP00000386000.1:n.*113C>T
ENST00000405076.5:c.*3C>T	ENSP00000385175.1:n.*3C>T
ENST00000405983.5:c.*3C>T	ENSP00000384586.1:n.*3C>T
ENST00000415514.5:c.*335C>T	ENSP00000388043.1:n.*335C>T
ENST00000426513.6:c.*199C>T	ENSP00000403824.2:n.*199C>T
ENST00000430991.5:c.368C>T
ENST00000620797.4:n.207C>T
ENST00000621183.4:n.837C>T
NM_002437.4:c.*3C>T	NP_002428.1:n.*3C>T
XM_005264326.2:c.*3C>T	XP_005264383.1:n.*3C>T
XM_005264327.2:c.*3C>T	XP_005264384.1:n.*3C>T
XM_006712021.2:c.*3C>T	XP_006712084.1:n.*3C>T
XM_005264326.4:c.*3C>T	XP_005264383.1:n.*3C>T
XM_006712021.3:c.*3C>T	XP_006712084.1:n.*3C>T
XM_017004150.1:c.*3C>T	XP_016859639.1:n.*3C>T
XM_017004151.1:c.*3C>T	XP_016859640.1:n.*3C>T
XM_017004152.1:c.*3C>T	XP_016859641.1:n.*3C>T
XM_024452913.1:c.*3C>T	XP_024308681.1:n.*3C>T
NM_002437.5:c.*3C>T MANE Select	NP_002428.1:n.*3C>T