Canonical Allele Identifier: CA346209300

Gene: MPV17

Linked Data

• gnomAD v4: 2-27313034-C-G
• MyVariant Identifiers: chr2:g.27535901C>G (hg19) ; chr2:g.27313034C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313034C>G , CM000664.2:g.27313034C>G	GRCh38
NC_000002.11:g.27535901C>G , CM000664.1:g.27535901C>G	GRCh37
NC_000002.10:g.27389405C>G	NCBI36
NG_008075.1:g.14531G>C
NG_033055.1:g.230G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.146G>C MANE Select	ENSP00000369383.1:p.Gly49Ala
ENST00000233545.6:c.146G>C	ENSP00000233545.2:p.Gly49Ala
ENST00000357186.10:c.19-262G>C	ENSP00000349713.6:n.19-262G>C
ENST00000380044.5:c.146G>C	ENSP00000369383.1:p.Gly49Ala
ENST00000402310.5:c.146G>C	ENSP00000383955.1:p.Gly49Ala
ENST00000402722.5:c.111G>C	ENSP00000386000.1:p.Arg37Ser
ENST00000403262.6:c.146G>C	ENSP00000385671.1:p.Gly49Ala
ENST00000405076.5:c.146G>C	ENSP00000385175.1:p.Gly49Ala
ENST00000405983.5:c.191G>C	ENSP00000384586.1:p.Gly64Ala
ENST00000415514.5:c.228-262G>C	ENSP00000388043.1:n.228-262G>C
ENST00000426513.6:c.111G>C	ENSP00000403824.2:p.Arg37Ser
ENST00000428910.5:c.68G>C	ENSP00000405235.1:p.Gly23Ala
ENST00000430991.5:c.76G>C
ENST00000616446.1:n.123G>C
ENST00000616707.1:n.354G>C
ENST00000617583.4:n.172G>C
ENST00000621183.4:n.202G>C
ENST00000621470.4:n.162G>C
ENST00000622003.4:n.319G>C
NM_002437.4:c.146G>C	NP_002428.1:p.Gly49Ala
XM_005264326.2:c.146G>C	XP_005264383.1:p.Gly49Ala
XM_005264327.2:c.-14G>C	XP_005264384.1:n.-14G>C
XM_006712021.2:c.98G>C	XP_006712084.1:p.Gly33Ala
XM_005264326.4:c.146G>C	XP_005264383.1:p.Gly49Ala
XM_006712021.3:c.98G>C	XP_006712084.1:p.Gly33Ala
XM_017004150.1:c.128G>C	XP_016859639.1:p.Gly43Ala
XM_017004151.1:c.98G>C	XP_016859640.1:p.Gly33Ala
XM_017004152.1:c.-14G>C	XP_016859641.1:n.-14G>C
XM_024452913.1:c.98G>C	XP_024308681.1:p.Gly33Ala
NM_002437.5:c.146G>C MANE Select	NP_002428.1:p.Gly49Ala