Canonical Allele Identifier: CA346205307

Gene: MPV17

Linked Data

• dbSNP Id: rs1679363756
• gnomAD v3: 2-27309913-T-G
• gnomAD v4: 2-27309913-T-G
• MyVariant Identifiers: chr2:g.27532781T>G (hg19) ; chr2:g.27309913T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309913T>G , CM000664.2:g.27309913T>G	GRCh38
NC_000002.11:g.27532781T>G , CM000664.1:g.27532781T>G	GRCh37
NC_000002.10:g.27386285T>G	NCBI36
NG_008075.1:g.17651A>C
NG_033055.1:g.3350A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.530A>C MANE Select	ENSP00000369383.1:p.Ter177Ser
ENST00000233545.6:c.530A>C	ENSP00000233545.2:p.Ter177Ser
ENST00000357186.10:c.362A>C	ENSP00000349713.6:p.Ter121Ser
ENST00000380044.5:c.530A>C	ENSP00000369383.1:p.Ter177Ser
ENST00000402310.5:c.477A>C	ENSP00000383955.1:p.Leu159=
ENST00000402722.5:c.*109A>C	ENSP00000386000.1:n.*109A>C
ENST00000405076.5:c.341A>C	ENSP00000385175.1:p.Ter114Ser
ENST00000405983.5:c.575A>C	ENSP00000384586.1:p.Ter192Ser
ENST00000415514.5:c.*331A>C	ENSP00000388043.1:n.*331A>C
ENST00000426513.6:c.*195A>C	ENSP00000403824.2:n.*195A>C
ENST00000430991.5:c.364A>C
ENST00000620797.4:n.203A>C
ENST00000621183.4:n.833A>C
NM_002437.4:c.530A>C	NP_002428.1:p.Ter177Ser
XM_005264326.2:c.530A>C	XP_005264383.1:p.Ter177Ser
XM_005264327.2:c.371A>C	XP_005264384.1:p.Ter124Ser
XM_006712021.2:c.482A>C	XP_006712084.1:p.Ter161Ser
XM_005264326.4:c.530A>C	XP_005264383.1:p.Ter177Ser
XM_006712021.3:c.482A>C	XP_006712084.1:p.Ter161Ser
XM_017004150.1:c.512A>C	XP_016859639.1:p.Ter171Ser
XM_017004151.1:c.482A>C	XP_016859640.1:p.Ter161Ser
XM_017004152.1:c.371A>C	XP_016859641.1:p.Ter124Ser
XM_024452913.1:c.482A>C	XP_024308681.1:p.Ter161Ser
NM_002437.5:c.530A>C MANE Select	NP_002428.1:p.Ter177Ser