Canonical Allele Identifier: CA346209495

Gene: MPV17

Linked Data

• gnomAD v4: 2-27313091-C-A
• MyVariant Identifiers: chr2:g.27535958C>A (hg19) ; chr2:g.27313091C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313091C>A , CM000664.2:g.27313091C>A	GRCh38
NC_000002.11:g.27535958C>A , CM000664.1:g.27535958C>A	GRCh37
NC_000002.10:g.27389462C>A	NCBI36
NG_008075.1:g.14474G>T
NG_033055.1:g.173G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.89G>T MANE Select	ENSP00000369383.1:p.Gly30Val
ENST00000233545.6:c.89G>T	ENSP00000233545.2:p.Gly30Val
ENST00000357186.10:c.19-319G>T	ENSP00000349713.6:n.19-319G>T
ENST00000380044.5:c.89G>T	ENSP00000369383.1:p.Gly30Val
ENST00000402310.5:c.89G>T	ENSP00000383955.1:p.Gly30Val
ENST00000402722.5:c.71-17G>T	ENSP00000386000.1:n.71-17G>T
ENST00000403262.6:c.89G>T	ENSP00000385671.1:p.Gly30Val
ENST00000405076.5:c.89G>T	ENSP00000385175.1:p.Gly30Val
ENST00000405983.5:c.134G>T	ENSP00000384586.1:p.Gly45Val
ENST00000415514.5:c.228-319G>T	ENSP00000388043.1:n.228-319G>T
ENST00000426513.6:c.71-17G>T	ENSP00000403824.2:n.71-17G>T
ENST00000428910.5:c.11G>T	ENSP00000405235.1:p.Gly4Val
ENST00000430991.5:c.19G>T
ENST00000616446.1:n.66G>T
ENST00000616707.1:n.297G>T
ENST00000617583.4:n.115G>T
ENST00000621183.4:n.145G>T
ENST00000621470.4:n.122-17G>T
ENST00000622003.4:n.262G>T
NM_002437.4:c.89G>T	NP_002428.1:p.Gly30Val
XM_005264326.2:c.89G>T	XP_005264383.1:p.Gly30Val
XM_005264327.2:c.-54-17G>T	XP_005264384.1:n.-54-17G>T
XM_006712021.2:c.41G>T	XP_006712084.1:p.Gly14Val
XM_005264326.4:c.89G>T	XP_005264383.1:p.Gly30Val
XM_006712021.3:c.41G>T	XP_006712084.1:p.Gly14Val
XM_017004150.1:c.71G>T	XP_016859639.1:p.Gly24Val
XM_017004151.1:c.41G>T	XP_016859640.1:p.Gly14Val
XM_017004152.1:c.-54-17G>T	XP_016859641.1:n.-54-17G>T
XM_024452913.1:c.41G>T	XP_024308681.1:p.Gly14Val
NM_002437.5:c.89G>T MANE Select	NP_002428.1:p.Gly30Val