Canonical Allele Identifier: CA346207762

Gene: MPV17

Linked Data

• dbSNP Id: rs1223032315
• gnomAD v2: 2-27535365-T-G
• gnomAD v4: 2-27312498-T-G
• MyVariant Identifiers: chr2:g.27535365T>G (hg19) ; chr2:g.27312498T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312498T>G , CM000664.2:g.27312498T>G	GRCh38
NC_000002.11:g.27535365T>G , CM000664.1:g.27535365T>G	GRCh37
NC_000002.10:g.27388869T>G	NCBI36
NG_008075.1:g.15067A>C
NG_033055.1:g.766A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.371A>C MANE Select	ENSP00000369383.1:p.Gln124Pro
ENST00000233545.6:c.371A>C	ENSP00000233545.2:p.Gln124Pro
ENST00000357186.10:c.203A>C	ENSP00000349713.6:p.Gln68Pro
ENST00000380044.5:c.371A>C	ENSP00000369383.1:p.Gln124Pro
ENST00000402310.5:c.371A>C	ENSP00000383955.1:p.Gln124Pro
ENST00000402722.5:c.*36A>C	ENSP00000386000.1:n.*36A>C
ENST00000403262.6:c.371A>C	ENSP00000385671.1:p.Gln124Pro
ENST00000405076.5:c.187-252A>C	ENSP00000385175.1:n.187-252A>C
ENST00000405983.5:c.416A>C	ENSP00000384586.1:p.Gln139Pro
ENST00000415514.5:c.*172A>C	ENSP00000388043.1:n.*172A>C
ENST00000426513.6:c.*36A>C	ENSP00000403824.2:n.*36A>C
ENST00000428910.5:c.293A>C	ENSP00000405235.1:p.Gln98Pro
ENST00000430991.5:c.209+182A>C
ENST00000475085.1:n.399A>C
ENST00000616446.1:n.348A>C
ENST00000616707.1:n.890A>C
ENST00000617583.4:n.397A>C
ENST00000621183.4:n.427A>C
ENST00000621470.4:n.387A>C
ENST00000622003.4:n.544A>C
NM_002437.4:c.371A>C	NP_002428.1:p.Gln124Pro
XM_005264326.2:c.371A>C	XP_005264383.1:p.Gln124Pro
XM_005264327.2:c.212A>C	XP_005264384.1:p.Gln71Pro
XM_006712021.2:c.323A>C	XP_006712084.1:p.Gln108Pro
XM_005264326.4:c.371A>C	XP_005264383.1:p.Gln124Pro
XM_006712021.3:c.323A>C	XP_006712084.1:p.Gln108Pro
XM_017004150.1:c.353A>C	XP_016859639.1:p.Gln118Pro
XM_017004151.1:c.323A>C	XP_016859640.1:p.Gln108Pro
XM_017004152.1:c.212A>C	XP_016859641.1:p.Gln71Pro
XM_024452913.1:c.323A>C	XP_024308681.1:p.Gln108Pro
NM_002437.5:c.371A>C MANE Select	NP_002428.1:p.Gln124Pro