Canonical Allele Identifier: CA346160708

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27545320G>T (hg19) ; chr2:g.27322453G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322453G>T , CM000664.2:g.27322453G>T	GRCh38
NC_000002.11:g.27545320G>T , CM000664.1:g.27545320G>T	GRCh37
NC_000002.10:g.27398824G>T	NCBI36
NG_008075.1:g.5112C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.65C>A MANE Select	ENSP00000369383.1:p.Thr22Lys
ENST00000233545.6:c.65C>A	ENSP00000233545.2:p.Thr22Lys
ENST00000357186.10:c.18+1980C>A	ENSP00000349713.6:n.18+1980C>A
ENST00000380044.5:c.65C>A	ENSP00000369383.1:p.Thr22Lys
ENST00000399052.8:c.65C>A	ENSP00000382006.4:p.Thr22Lys
ENST00000402310.5:c.65C>A	ENSP00000383955.1:p.Thr22Lys
ENST00000402722.5:c.65C>A	ENSP00000386000.1:p.Thr22Lys
ENST00000403262.6:c.65C>A	ENSP00000385671.1:p.Thr22Lys
ENST00000405076.5:c.65C>A	ENSP00000385175.1:p.Thr22Lys
ENST00000405983.5:c.65C>A	ENSP00000384586.1:p.Thr22Lys
ENST00000415514.5:c.65C>A	ENSP00000388043.1:p.Thr22Lys
ENST00000426513.6:c.65C>A	ENSP00000403824.2:p.Thr22Lys
ENST00000428910.5:c.-138C>A	ENSP00000405235.1:n.-138C>A
ENST00000486898.1:n.116C>A
ENST00000494436.1:n.96C>A
ENST00000617583.4:n.91C>A
ENST00000621183.4:n.121C>A
ENST00000621470.4:n.116C>A
ENST00000622003.4:n.81C>A
NM_002437.4:c.65C>A	NP_002428.1:p.Thr22Lys
XM_005264326.2:c.65C>A	XP_005264383.1:p.Thr22Lys
XM_005264327.2:c.-60C>A	XP_005264384.1:n.-60C>A
XM_006712021.2:c.-141C>A	XP_006712084.1:n.-141C>A
XM_005264326.4:c.65C>A	XP_005264383.1:p.Thr22Lys
XM_006712021.3:c.-141C>A	XP_006712084.1:n.-141C>A
XM_017004150.1:c.-3188C>A	XP_016859639.1:n.-3188C>A
XM_017004151.1:c.-80C>A	XP_016859640.1:n.-80C>A
XM_017004152.1:c.-217C>A	XP_016859641.1:n.-217C>A
XM_024452913.1:c.-141C>A	XP_024308681.1:n.-141C>A
NM_002437.5:c.65C>A MANE Select	NP_002428.1:p.Thr22Lys