Canonical Allele Identifier: CA346207896

Gene: MPV17

Linked Data

• dbSNP Id: rs1446216553
• gnomAD v2: 2-27535383-T-C
• gnomAD v3: 2-27312516-T-C
• gnomAD v4: 2-27312516-T-C
• MyVariant Identifiers: chr2:g.27535383T>C (hg19) ; chr2:g.27312516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312516T>C , CM000664.2:g.27312516T>C	GRCh38
NC_000002.11:g.27535383T>C , CM000664.1:g.27535383T>C	GRCh37
NC_000002.10:g.27388887T>C	NCBI36
NG_008075.1:g.15049A>G
NG_033055.1:g.748A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.353A>G MANE Select	ENSP00000369383.1:p.Asp118Gly
ENST00000233545.6:c.353A>G	ENSP00000233545.2:p.Asp118Gly
ENST00000357186.10:c.185A>G	ENSP00000349713.6:p.Asp62Gly
ENST00000380044.5:c.353A>G	ENSP00000369383.1:p.Asp118Gly
ENST00000402310.5:c.353A>G	ENSP00000383955.1:p.Asp118Gly
ENST00000402722.5:c.*18A>G	ENSP00000386000.1:n.*18A>G
ENST00000403262.6:c.353A>G	ENSP00000385671.1:p.Asp118Gly
ENST00000405076.5:c.187-270A>G	ENSP00000385175.1:n.187-270A>G
ENST00000405983.5:c.398A>G	ENSP00000384586.1:p.Asp133Gly
ENST00000415514.5:c.*154A>G	ENSP00000388043.1:n.*154A>G
ENST00000426513.6:c.*18A>G	ENSP00000403824.2:n.*18A>G
ENST00000428910.5:c.275A>G	ENSP00000405235.1:p.Asp92Gly
ENST00000430991.5:c.209+164A>G
ENST00000475085.1:n.381A>G
ENST00000616446.1:n.330A>G
ENST00000616707.1:n.872A>G
ENST00000617583.4:n.379A>G
ENST00000621183.4:n.409A>G
ENST00000621470.4:n.369A>G
ENST00000622003.4:n.526A>G
NM_002437.4:c.353A>G	NP_002428.1:p.Asp118Gly
XM_005264326.2:c.353A>G	XP_005264383.1:p.Asp118Gly
XM_005264327.2:c.194A>G	XP_005264384.1:p.Asp65Gly
XM_006712021.2:c.305A>G	XP_006712084.1:p.Asp102Gly
XM_005264326.4:c.353A>G	XP_005264383.1:p.Asp118Gly
XM_006712021.3:c.305A>G	XP_006712084.1:p.Asp102Gly
XM_017004150.1:c.335A>G	XP_016859639.1:p.Asp112Gly
XM_017004151.1:c.305A>G	XP_016859640.1:p.Asp102Gly
XM_017004152.1:c.194A>G	XP_016859641.1:p.Asp65Gly
XM_024452913.1:c.305A>G	XP_024308681.1:p.Asp102Gly
NM_002437.5:c.353A>G MANE Select	NP_002428.1:p.Asp118Gly