Canonical Allele Identifier: CA346209102

Gene: MPV17

Linked Data

• gnomAD v4: 2-27312996-C-A
• MyVariant Identifiers: chr2:g.27535863C>A (hg19) ; chr2:g.27312996C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312996C>A , CM000664.2:g.27312996C>A	GRCh38
NC_000002.11:g.27535863C>A , CM000664.1:g.27535863C>A	GRCh37
NC_000002.10:g.27389367C>A	NCBI36
NG_008075.1:g.14569G>T
NG_033055.1:g.268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.184G>T MANE Select	ENSP00000369383.1:p.Val62Leu
ENST00000233545.6:c.184G>T	ENSP00000233545.2:p.Val62Leu
ENST00000357186.10:c.19-224G>T	ENSP00000349713.6:n.19-224G>T
ENST00000380044.5:c.184G>T	ENSP00000369383.1:p.Val62Leu
ENST00000402310.5:c.184G>T	ENSP00000383955.1:p.Val62Leu
ENST00000402722.5:c.149G>T	ENSP00000386000.1:p.Cys50Phe
ENST00000403262.6:c.184G>T	ENSP00000385671.1:p.Val62Leu
ENST00000405076.5:c.184G>T	ENSP00000385175.1:p.Val62Leu
ENST00000405983.5:c.229G>T	ENSP00000384586.1:p.Val77Leu
ENST00000415514.5:c.228-224G>T	ENSP00000388043.1:n.228-224G>T
ENST00000426513.6:c.149G>T	ENSP00000403824.2:p.Cys50Phe
ENST00000428910.5:c.106G>T	ENSP00000405235.1:p.Val36Leu
ENST00000430991.5:c.114G>T
ENST00000616446.1:n.161G>T
ENST00000616707.1:n.392G>T
ENST00000617583.4:n.210G>T
ENST00000621183.4:n.240G>T
ENST00000621470.4:n.200G>T
ENST00000622003.4:n.357G>T
NM_002437.4:c.184G>T	NP_002428.1:p.Val62Leu
XM_005264326.2:c.184G>T	XP_005264383.1:p.Val62Leu
XM_005264327.2:c.25G>T	XP_005264384.1:p.Val9Leu
XM_006712021.2:c.136G>T	XP_006712084.1:p.Val46Leu
XM_005264326.4:c.184G>T	XP_005264383.1:p.Val62Leu
XM_006712021.3:c.136G>T	XP_006712084.1:p.Val46Leu
XM_017004150.1:c.166G>T	XP_016859639.1:p.Val56Leu
XM_017004151.1:c.136G>T	XP_016859640.1:p.Val46Leu
XM_017004152.1:c.25G>T	XP_016859641.1:p.Val9Leu
XM_024452913.1:c.136G>T	XP_024308681.1:p.Val46Leu
NM_002437.5:c.184G>T MANE Select	NP_002428.1:p.Val62Leu