Canonical Allele Identifier: CA44473147

Gene: MPV17

Linked Data

• dbSNP Id: rs1030809433
• gnomAD v2: 2-27545938-C-T
• gnomAD v3: 2-27323071-C-T
• gnomAD v4: 2-27323071-C-T
• MyVariant Identifiers: chr2:g.27545938C>T (hg19) ; chr2:g.27323071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323071C>T , CM000664.2:g.27323071C>T	GRCh38
NC_000002.11:g.27545938C>T , CM000664.1:g.27545938C>T	GRCh37
NC_000002.10:g.27399442C>T	NCBI36
NG_008075.1:g.4494G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-25G>A MANE Select	ENSP00000369383.1:n.-25G>A
ENST00000357186.10:c.18+1362G>A	ENSP00000349713.6:n.18+1362G>A
ENST00000380044.5:c.-25G>A	ENSP00000369383.1:n.-25G>A
ENST00000399052.8:c.-25G>A	ENSP00000382006.4:n.-25G>A
ENST00000402722.5:c.-25G>A	ENSP00000386000.1:n.-25G>A
ENST00000405076.5:c.-25G>A	ENSP00000385175.1:n.-25G>A
ENST00000426513.6:c.-25G>A	ENSP00000403824.2:n.-25G>A
ENST00000428910.5:c.-227G>A	ENSP00000405235.1:n.-227G>A
ENST00000486898.1:n.27G>A
ENST00000494436.1:n.7G>A
ENST00000617583.4:n.2G>A
ENST00000621183.4:n.32G>A
ENST00000621470.4:n.27G>A
NM_002437.4:c.-25G>A	NP_002428.1:n.-25G>A
XM_005264327.2:c.-149G>A	XP_005264384.1:n.-149G>A
XM_006712021.2:c.-230G>A	XP_006712084.1:n.-230G>A
XM_006712021.3:c.-230G>A	XP_006712084.1:n.-230G>A
XM_017004150.1:c.-3277G>A	XP_016859639.1:n.-3277G>A
NM_002437.5:c.-25G>A MANE Select	NP_002428.1:n.-25G>A