Canonical Allele Identifier: CA346205304

Gene: MPV17

Linked Data

• dbSNP Id: rs1261403058
• gnomAD v2: 2-27532780-T-G
• gnomAD v4: 2-27309912-T-G
• MyVariant Identifiers: chr2:g.27532780T>G (hg19) ; chr2:g.27309912T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309912T>G , CM000664.2:g.27309912T>G	GRCh38
NC_000002.11:g.27532780T>G , CM000664.1:g.27532780T>G	GRCh37
NC_000002.10:g.27386284T>G	NCBI36
NG_008075.1:g.17652A>C
NG_033055.1:g.3351A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.531A>C MANE Select	ENSP00000369383.1:p.Ter177Tyr
ENST00000233545.6:c.531A>C	ENSP00000233545.2:p.Ter177Tyr
ENST00000357186.10:c.363A>C	ENSP00000349713.6:p.Ter121Tyr
ENST00000380044.5:c.531A>C	ENSP00000369383.1:p.Ter177Tyr
ENST00000402310.5:c.478A>C	ENSP00000383955.1:p.Ser160Arg
ENST00000402722.5:c.*110A>C	ENSP00000386000.1:n.*110A>C
ENST00000405076.5:c.342A>C	ENSP00000385175.1:p.Ter114Tyr
ENST00000405983.5:c.576A>C	ENSP00000384586.1:p.Ter192Tyr
ENST00000415514.5:c.*332A>C	ENSP00000388043.1:n.*332A>C
ENST00000426513.6:c.*196A>C	ENSP00000403824.2:n.*196A>C
ENST00000430991.5:c.365A>C
ENST00000620797.4:n.204A>C
ENST00000621183.4:n.834A>C
NM_002437.4:c.531A>C	NP_002428.1:p.Ter177Tyr
XM_005264326.2:c.531A>C	XP_005264383.1:p.Ter177Tyr
XM_005264327.2:c.372A>C	XP_005264384.1:p.Ter124Tyr
XM_006712021.2:c.483A>C	XP_006712084.1:p.Ter161Tyr
XM_005264326.4:c.531A>C	XP_005264383.1:p.Ter177Tyr
XM_006712021.3:c.483A>C	XP_006712084.1:p.Ter161Tyr
XM_017004150.1:c.513A>C	XP_016859639.1:p.Ter171Tyr
XM_017004151.1:c.483A>C	XP_016859640.1:p.Ter161Tyr
XM_017004152.1:c.372A>C	XP_016859641.1:p.Ter124Tyr
XM_024452913.1:c.483A>C	XP_024308681.1:p.Ter161Tyr
NM_002437.5:c.531A>C MANE Select	NP_002428.1:p.Ter177Tyr