Canonical Allele Identifier: CA44473165

Gene: MPV17

Linked Data

• dbSNP Id: rs868290285
• gnomAD v4: 2-27323093-G-A
• MyVariant Identifiers: chr2:g.27545960G>A (hg19) ; chr2:g.27323093G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323093G>A , CM000664.2:g.27323093G>A	GRCh38
NC_000002.11:g.27545960G>A , CM000664.1:g.27545960G>A	GRCh37
NC_000002.10:g.27399464G>A	NCBI36
NG_008075.1:g.4472C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-47C>T MANE Select	ENSP00000369383.1:n.-47C>T
ENST00000357186.10:c.18+1340C>T	ENSP00000349713.6:n.18+1340C>T
ENST00000380044.5:c.-47C>T	ENSP00000369383.1:n.-47C>T
ENST00000399052.8:c.-47C>T	ENSP00000382006.4:n.-47C>T
ENST00000405076.5:c.-47C>T	ENSP00000385175.1:n.-47C>T
ENST00000486898.1:n.5C>T
ENST00000621183.4:n.10C>T
ENST00000621470.4:n.5C>T
NM_002437.4:c.-47C>T	NP_002428.1:n.-47C>T
XM_005264327.2:c.-171C>T	XP_005264384.1:n.-171C>T
XM_006712021.2:c.-252C>T	XP_006712084.1:n.-252C>T
XM_006712021.3:c.-252C>T	XP_006712084.1:n.-252C>T
XM_017004150.1:c.-3299C>T	XP_016859639.1:n.-3299C>T
NM_002437.5:c.-47C>T MANE Select	NP_002428.1:n.-47C>T