Canonical Allele Identifier: CA767382946

Gene: MPV17

Linked Data

• dbSNP Id: rs1356423156
• gnomAD v3: 2-27323065-C-A
• gnomAD v4: 2-27323065-C-A
• MyVariant Identifiers: chr2:g.27545932C>A (hg19) ; chr2:g.27323065C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323065C>A , CM000664.2:g.27323065C>A	GRCh38
NC_000002.11:g.27545932C>A , CM000664.1:g.27545932C>A	GRCh37
NC_000002.10:g.27399436C>A	NCBI36
NG_008075.1:g.4500G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-19G>T MANE Select	ENSP00000369383.1:n.-19G>T
ENST00000357186.10:c.18+1368G>T	ENSP00000349713.6:n.18+1368G>T
ENST00000380044.5:c.-19G>T	ENSP00000369383.1:n.-19G>T
ENST00000399052.8:c.-19G>T	ENSP00000382006.4:n.-19G>T
ENST00000402722.5:c.-19G>T	ENSP00000386000.1:n.-19G>T
ENST00000403262.6:c.-19G>T	ENSP00000385671.1:n.-19G>T
ENST00000405076.5:c.-19G>T	ENSP00000385175.1:n.-19G>T
ENST00000426513.6:c.-19G>T	ENSP00000403824.2:n.-19G>T
ENST00000428910.5:c.-221G>T	ENSP00000405235.1:n.-221G>T
ENST00000486898.1:n.33G>T
ENST00000494436.1:n.13G>T
ENST00000617583.4:n.8G>T
ENST00000621183.4:n.38G>T
ENST00000621470.4:n.33G>T
NM_002437.4:c.-19G>T	NP_002428.1:n.-19G>T
XM_005264327.2:c.-143G>T	XP_005264384.1:n.-143G>T
XM_006712021.2:c.-224G>T	XP_006712084.1:n.-224G>T
XM_005264326.4:c.-81G>T	XP_005264383.1:n.-81G>T
XM_006712021.3:c.-224G>T	XP_006712084.1:n.-224G>T
XM_017004150.1:c.-3271G>T	XP_016859639.1:n.-3271G>T
NM_002437.5:c.-19G>T MANE Select	NP_002428.1:n.-19G>T