Canonical Allele Identifier: CA1575453

Gene: MPV17

Linked Data

• ClinVar Variation Id: 335525
• ClinVar RCV Id: RCV000278409
• dbSNP Id: rs147885371
• ExAC: 2:27532746 C / T
• gnomAD v2: 2-27532746-C-T
• gnomAD v3: 2-27309878-C-T
• gnomAD v4: 2-27309878-C-T
• MyVariant Identifiers: chr2:g.27532746C>T (hg19) ; chr2:g.27309878C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309878C>T , CM000664.2:g.27309878C>T	GRCh38
NC_000002.11:g.27532746C>T , CM000664.1:g.27532746C>T	GRCh37
NC_000002.10:g.27386250C>T	NCBI36
NG_008075.1:g.17686G>A
NG_033055.1:g.3385G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.*34G>A MANE Select	ENSP00000369383.1:n.*34G>A
ENST00000233545.6:c.*34G>A	ENSP00000233545.2:n.*34G>A
ENST00000357186.10:c.*34G>A	ENSP00000349713.6:n.*34G>A
ENST00000380044.5:c.*34G>A	ENSP00000369383.1:n.*34G>A
ENST00000402310.5:c.512G>A	ENSP00000383955.1:p.Ter171=
ENST00000402722.5:c.*144G>A	ENSP00000386000.1:n.*144G>A
ENST00000405076.5:c.*34G>A	ENSP00000385175.1:n.*34G>A
ENST00000405983.5:c.*34G>A	ENSP00000384586.1:n.*34G>A
ENST00000426513.6:c.*230G>A	ENSP00000403824.2:n.*230G>A
ENST00000430991.5:c.399G>A
ENST00000620797.4:n.238G>A
ENST00000621183.4:n.868G>A
NM_002437.4:c.*34G>A	NP_002428.1:n.*34G>A
XM_005264326.2:c.*34G>A	XP_005264383.1:n.*34G>A
XM_005264327.2:c.*34G>A	XP_005264384.1:n.*34G>A
XM_006712021.2:c.*34G>A	XP_006712084.1:n.*34G>A
XM_005264326.4:c.*34G>A	XP_005264383.1:n.*34G>A
XM_006712021.3:c.*34G>A	XP_006712084.1:n.*34G>A
XM_017004150.1:c.*34G>A	XP_016859639.1:n.*34G>A
XM_017004151.1:c.*34G>A	XP_016859640.1:n.*34G>A
XM_017004152.1:c.*34G>A	XP_016859641.1:n.*34G>A
XM_024452913.1:c.*34G>A	XP_024308681.1:n.*34G>A
NM_002437.5:c.*34G>A MANE Select	NP_002428.1:n.*34G>A