Canonical Allele Identifier: CA44473145

Gene: MPV17

Linked Data

• dbSNP Id: rs960903372
• gnomAD v3: 2-27323061-G-T
• gnomAD v4: 2-27323061-G-T
• MyVariant Identifiers: chr2:g.27545928G>T (hg19) ; chr2:g.27323061G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323061G>T , CM000664.2:g.27323061G>T	GRCh38
NC_000002.11:g.27545928G>T , CM000664.1:g.27545928G>T	GRCh37
NC_000002.10:g.27399432G>T	NCBI36
NG_008075.1:g.4504C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-15C>A MANE Select	ENSP00000369383.1:n.-15C>A
ENST00000357186.10:c.18+1372C>A	ENSP00000349713.6:n.18+1372C>A
ENST00000380044.5:c.-15C>A	ENSP00000369383.1:n.-15C>A
ENST00000399052.8:c.-15C>A	ENSP00000382006.4:n.-15C>A
ENST00000402722.5:c.-15C>A	ENSP00000386000.1:n.-15C>A
ENST00000403262.6:c.-15C>A	ENSP00000385671.1:n.-15C>A
ENST00000405076.5:c.-15C>A	ENSP00000385175.1:n.-15C>A
ENST00000405983.5:c.-15C>A	ENSP00000384586.1:n.-15C>A
ENST00000415514.5:c.-15C>A	ENSP00000388043.1:n.-15C>A
ENST00000426513.6:c.-15C>A	ENSP00000403824.2:n.-15C>A
ENST00000428910.5:c.-217C>A	ENSP00000405235.1:n.-217C>A
ENST00000486898.1:n.37C>A
ENST00000494436.1:n.17C>A
ENST00000617583.4:n.12C>A
ENST00000621183.4:n.42C>A
ENST00000621470.4:n.37C>A
ENST00000622003.4:n.2C>A
NM_002437.4:c.-15C>A	NP_002428.1:n.-15C>A
XM_005264327.2:c.-139C>A	XP_005264384.1:n.-139C>A
XM_006712021.2:c.-220C>A	XP_006712084.1:n.-220C>A
XM_005264326.4:c.-77C>A	XP_005264383.1:n.-77C>A
XM_006712021.3:c.-220C>A	XP_006712084.1:n.-220C>A
XM_017004150.1:c.-3267C>A	XP_016859639.1:n.-3267C>A
NM_002437.5:c.-15C>A MANE Select	NP_002428.1:n.-15C>A