Canonical Allele Identifier: CA425388176

Gene: MPV17

Linked Data

• dbSNP Id: rs1679895614
• gnomAD v4: 2-27322452-T-A
• MyVariant Identifiers: chr2:g.27545319T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322452T>A , CM000664.2:g.27322452T>A	GRCh38
NC_000002.11:g.27545319T>A , CM000664.1:g.27545319T>A	GRCh37
NC_000002.10:g.27398823T>A	NCBI36
NG_008075.1:g.5113A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.66A>T MANE Select	ENSP00000369383.1:p.Thr22=
ENST00000233545.6:c.66A>T	ENSP00000233545.2:p.Thr22=
ENST00000357186.10:c.18+1981A>T	ENSP00000349713.6:n.18+1981A>T
ENST00000380044.5:c.66A>T	ENSP00000369383.1:p.Thr22=
ENST00000399052.8:c.66A>T	ENSP00000382006.4:p.Thr22=
ENST00000402310.5:c.66A>T	ENSP00000383955.1:p.Thr22=
ENST00000402722.5:c.66A>T	ENSP00000386000.1:p.Thr22=
ENST00000403262.6:c.66A>T	ENSP00000385671.1:p.Thr22=
ENST00000405076.5:c.66A>T	ENSP00000385175.1:p.Thr22=
ENST00000405983.5:c.66A>T	ENSP00000384586.1:p.Thr22=
ENST00000415514.5:c.66A>T	ENSP00000388043.1:p.Thr22=
ENST00000426513.6:c.66A>T	ENSP00000403824.2:p.Thr22=
ENST00000428910.5:c.-137A>T	ENSP00000405235.1:n.-137A>T
ENST00000486898.1:n.117A>T
ENST00000494436.1:n.97A>T
ENST00000617583.4:n.92A>T
ENST00000621183.4:n.122A>T
ENST00000621470.4:n.117A>T
ENST00000622003.4:n.82A>T
NM_002437.4:c.66A>T	NP_002428.1:p.Thr22=
XM_005264326.2:c.66A>T	XP_005264383.1:p.Thr22=
XM_005264327.2:c.-59A>T	XP_005264384.1:n.-59A>T
XM_006712021.2:c.-140A>T	XP_006712084.1:n.-140A>T
XM_005264326.4:c.66A>T	XP_005264383.1:p.Thr22=
XM_006712021.3:c.-140A>T	XP_006712084.1:n.-140A>T
XM_017004150.1:c.-3187A>T	XP_016859639.1:n.-3187A>T
XM_017004151.1:c.-79A>T	XP_016859640.1:n.-79A>T
XM_017004152.1:c.-216A>T	XP_016859641.1:n.-216A>T
XM_024452913.1:c.-140A>T	XP_024308681.1:n.-140A>T
NM_002437.5:c.66A>T MANE Select	NP_002428.1:p.Thr22=