Canonical Allele Identifier: CA346209049

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535637G>A (hg19) ; chr2:g.27312770G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312770G>A , CM000664.2:g.27312770G>A	GRCh38
NC_000002.11:g.27535637G>A , CM000664.1:g.27535637G>A	GRCh37
NC_000002.10:g.27389141G>A	NCBI36
NG_008075.1:g.14795C>T
NG_033055.1:g.494C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.189C>T MANE Select	ENSP00000369383.1:p.Gly63=
ENST00000233545.6:c.189C>T	ENSP00000233545.2:p.Gly63=
ENST00000357186.10:c.21C>T	ENSP00000349713.6:p.Gly7=
ENST00000380044.5:c.189C>T	ENSP00000369383.1:p.Gly63=
ENST00000402310.5:c.189C>T	ENSP00000383955.1:p.Gly63=
ENST00000402722.5:c.154C>T	ENSP00000386000.1:p.Pro52Ser
ENST00000403262.6:c.189C>T	ENSP00000385671.1:p.Gly63=
ENST00000405076.5:c.186+224C>T	ENSP00000385175.1:n.186+224C>T
ENST00000405983.5:c.234C>T	ENSP00000384586.1:p.Gly78=
ENST00000415514.5:c.230C>T	ENSP00000388043.1:p.Ala77Val
ENST00000426513.6:c.154C>T	ENSP00000403824.2:p.Pro52Ser
ENST00000428910.5:c.111C>T	ENSP00000405235.1:p.Gly37=
ENST00000430991.5:c.119C>T
ENST00000475085.1:n.217C>T
ENST00000616446.1:n.166C>T
ENST00000616707.1:n.618C>T
ENST00000617583.4:n.215C>T
ENST00000621183.4:n.245C>T
ENST00000621470.4:n.205C>T
ENST00000622003.4:n.362C>T
NM_002437.4:c.189C>T	NP_002428.1:p.Gly63=
XM_005264326.2:c.189C>T	XP_005264383.1:p.Gly63=
XM_005264327.2:c.30C>T	XP_005264384.1:p.Gly10=
XM_006712021.2:c.141C>T	XP_006712084.1:p.Gly47=
XM_005264326.4:c.189C>T	XP_005264383.1:p.Gly63=
XM_006712021.3:c.141C>T	XP_006712084.1:p.Gly47=
XM_017004150.1:c.171C>T	XP_016859639.1:p.Gly57=
XM_017004151.1:c.141C>T	XP_016859640.1:p.Gly47=
XM_017004152.1:c.30C>T	XP_016859641.1:p.Gly10=
XM_024452913.1:c.141C>T	XP_024308681.1:p.Gly47=
NM_002437.5:c.189C>T MANE Select	NP_002428.1:p.Gly63=