Canonical Allele Identifier: CA425388173

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27545316A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322449A>C , CM000664.2:g.27322449A>C	GRCh38
NC_000002.11:g.27545316A>C , CM000664.1:g.27545316A>C	GRCh37
NC_000002.10:g.27398820A>C	NCBI36
NG_008075.1:g.5116T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.69T>G MANE Select	ENSP00000369383.1:p.Ala23=
ENST00000233545.6:c.69T>G	ENSP00000233545.2:p.Ala23=
ENST00000357186.10:c.18+1984T>G	ENSP00000349713.6:n.18+1984T>G
ENST00000380044.5:c.69T>G	ENSP00000369383.1:p.Ala23=
ENST00000399052.8:c.69T>G	ENSP00000382006.4:p.Ala23=
ENST00000402310.5:c.69T>G	ENSP00000383955.1:p.Ala23=
ENST00000402722.5:c.69T>G	ENSP00000386000.1:p.Ala23=
ENST00000403262.6:c.69T>G	ENSP00000385671.1:p.Ala23=
ENST00000405076.5:c.69T>G	ENSP00000385175.1:p.Ala23=
ENST00000405983.5:c.69T>G	ENSP00000384586.1:p.Ala23=
ENST00000415514.5:c.69T>G	ENSP00000388043.1:p.Ala23=
ENST00000426513.6:c.69T>G	ENSP00000403824.2:p.Ala23=
ENST00000428910.5:c.-134T>G	ENSP00000405235.1:n.-134T>G
ENST00000486898.1:n.120T>G
ENST00000494436.1:n.100T>G
ENST00000617583.4:n.95T>G
ENST00000621183.4:n.125T>G
ENST00000621470.4:n.120T>G
ENST00000622003.4:n.85T>G
NM_002437.4:c.69T>G	NP_002428.1:p.Ala23=
XM_005264326.2:c.69T>G	XP_005264383.1:p.Ala23=
XM_005264327.2:c.-56T>G	XP_005264384.1:n.-56T>G
XM_006712021.2:c.-137T>G	XP_006712084.1:n.-137T>G
XM_005264326.4:c.69T>G	XP_005264383.1:p.Ala23=
XM_006712021.3:c.-137T>G	XP_006712084.1:n.-137T>G
XM_017004150.1:c.-3184T>G	XP_016859639.1:n.-3184T>G
XM_017004151.1:c.-76T>G	XP_016859640.1:n.-76T>G
XM_017004152.1:c.-213T>G	XP_016859641.1:n.-213T>G
XM_024452913.1:c.-137T>G	XP_024308681.1:n.-137T>G
NM_002437.5:c.69T>G MANE Select	NP_002428.1:p.Ala23=