Canonical Allele Identifier: CA346205454

Gene: MPV17

Linked Data

• ClinVar Variation Id: 1530916
• ClinVar RCV Id: RCV002099508
• dbSNP Id: rs1679366740
• gnomAD v4: 2-27309963-A-G
• MyVariant Identifiers: chr2:g.27532831A>G (hg19) ; chr2:g.27309963A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309963A>G , CM000664.2:g.27309963A>G	GRCh38
NC_000002.11:g.27532831A>G , CM000664.1:g.27532831A>G	GRCh37
NC_000002.10:g.27386335A>G	NCBI36
NG_008075.1:g.17601T>C
NG_033055.1:g.3300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.480T>C MANE Select	ENSP00000369383.1:p.Cys160=
ENST00000233545.6:c.480T>C	ENSP00000233545.2:p.Cys160=
ENST00000357186.10:c.312T>C	ENSP00000349713.6:p.Cys104=
ENST00000380044.5:c.480T>C	ENSP00000369383.1:p.Cys160=
ENST00000402310.5:c.427T>C	ENSP00000383955.1:p.Cys143Arg
ENST00000402722.5:c.*59T>C	ENSP00000386000.1:n.*59T>C
ENST00000405076.5:c.291T>C	ENSP00000385175.1:p.Cys97=
ENST00000405983.5:c.525T>C	ENSP00000384586.1:p.Cys175=
ENST00000415514.5:c.*281T>C	ENSP00000388043.1:n.*281T>C
ENST00000426513.6:c.*145T>C	ENSP00000403824.2:n.*145T>C
ENST00000430991.5:c.314T>C
ENST00000620797.4:n.153T>C
ENST00000621183.4:n.783T>C
NM_002437.4:c.480T>C	NP_002428.1:p.Cys160=
XM_005264326.2:c.480T>C	XP_005264383.1:p.Cys160=
XM_005264327.2:c.321T>C	XP_005264384.1:p.Cys107=
XM_006712021.2:c.432T>C	XP_006712084.1:p.Cys144=
XM_005264326.4:c.480T>C	XP_005264383.1:p.Cys160=
XM_006712021.3:c.432T>C	XP_006712084.1:p.Cys144=
XM_017004150.1:c.462T>C	XP_016859639.1:p.Cys154=
XM_017004151.1:c.432T>C	XP_016859640.1:p.Cys144=
XM_017004152.1:c.321T>C	XP_016859641.1:p.Cys107=
XM_024452913.1:c.432T>C	XP_024308681.1:p.Cys144=
NM_002437.5:c.480T>C MANE Select	NP_002428.1:p.Cys160=