Canonical Allele Identifier: CA531428692

Gene: MPV17

Linked Data

• dbSNP Id: rs1313931783
• gnomAD v2: 2-27535272-A-G
• gnomAD v3: 2-27312404-A-G
• gnomAD v4: 2-27312404-A-G
• MyVariant Identifiers: chr2:g.27535272A>G (hg19) ; chr2:g.27312404A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312404A>G , CM000664.2:g.27312404A>G	GRCh38
NC_000002.11:g.27535272A>G , CM000664.1:g.27535272A>G	GRCh37
NC_000002.10:g.27388776A>G	NCBI36
NG_008075.1:g.15160T>C
NG_033055.1:g.859T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.375+90T>C MANE Select	ENSP00000369383.1:n.375+90T>C
ENST00000233545.6:c.375+90T>C	ENSP00000233545.2:n.375+90T>C
ENST00000357186.10:c.207+90T>C	ENSP00000349713.6:n.207+90T>C
ENST00000380044.5:c.375+90T>C	ENSP00000369383.1:n.375+90T>C
ENST00000402310.5:c.375+90T>C	ENSP00000383955.1:n.375+90T>C
ENST00000402722.5:c.*40+90T>C	ENSP00000386000.1:n.*40+90T>C
ENST00000403262.6:c.375+90T>C	ENSP00000385671.1:n.375+90T>C
ENST00000405076.5:c.187-158T>C	ENSP00000385175.1:n.187-158T>C
ENST00000405983.5:c.420+90T>C	ENSP00000384586.1:n.420+90T>C
ENST00000415514.5:c.*176+90T>C	ENSP00000388043.1:n.*176+90T>C
ENST00000426513.6:c.*40+90T>C	ENSP00000403824.2:n.*40+90T>C
ENST00000428910.5:c.297+90T>C	ENSP00000405235.1:n.297+90T>C
ENST00000430991.5:c.210-158T>C
ENST00000475085.1:n.403+90T>C
ENST00000616446.1:n.442T>C
ENST00000616707.1:n.984T>C
ENST00000617583.4:n.491T>C
ENST00000620797.4:n.48+2T>C
ENST00000621183.4:n.521T>C
ENST00000621470.4:n.481T>C
ENST00000622003.4:n.638T>C
NM_002437.4:c.375+90T>C	NP_002428.1:n.375+90T>C
XM_005264326.2:c.375+90T>C	XP_005264383.1:n.375+90T>C
XM_005264327.2:c.216+90T>C	XP_005264384.1:n.216+90T>C
XM_006712021.2:c.327+90T>C	XP_006712084.1:n.327+90T>C
XM_005264326.4:c.375+90T>C	XP_005264383.1:n.375+90T>C
XM_006712021.3:c.327+90T>C	XP_006712084.1:n.327+90T>C
XM_017004150.1:c.357+90T>C	XP_016859639.1:n.357+90T>C
XM_017004151.1:c.327+90T>C	XP_016859640.1:n.327+90T>C
XM_017004152.1:c.216+90T>C	XP_016859641.1:n.216+90T>C
XM_024452913.1:c.327+90T>C	XP_024308681.1:n.327+90T>C
NM_002437.5:c.375+90T>C MANE Select	NP_002428.1:n.375+90T>C