Canonical Allele Identifier: CA346208906

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535613C>A (hg19) ; chr2:g.27312746C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312746C>A , CM000664.2:g.27312746C>A	GRCh38
NC_000002.11:g.27535613C>A , CM000664.1:g.27535613C>A	GRCh37
NC_000002.10:g.27389117C>A	NCBI36
NG_008075.1:g.14819G>T
NG_033055.1:g.518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.213G>T MANE Select	ENSP00000369383.1:p.Lys71Asn
ENST00000233545.6:c.213G>T	ENSP00000233545.2:p.Lys71Asn
ENST00000357186.10:c.45G>T	ENSP00000349713.6:p.Lys15Asn
ENST00000380044.5:c.213G>T	ENSP00000369383.1:p.Lys71Asn
ENST00000402310.5:c.213G>T	ENSP00000383955.1:p.Lys71Asn
ENST00000402722.5:c.178G>T	ENSP00000386000.1:p.Gly60Cys
ENST00000403262.6:c.213G>T	ENSP00000385671.1:p.Lys71Asn
ENST00000405076.5:c.186+248G>T	ENSP00000385175.1:n.186+248G>T
ENST00000405983.5:c.258G>T	ENSP00000384586.1:p.Lys86Asn
ENST00000415514.5:c.*14G>T	ENSP00000388043.1:n.*14G>T
ENST00000426513.6:c.178G>T	ENSP00000403824.2:p.Gly60Cys
ENST00000428910.5:c.135G>T	ENSP00000405235.1:p.Lys45Asn
ENST00000430991.5:c.143G>T
ENST00000475085.1:n.241G>T
ENST00000616446.1:n.190G>T
ENST00000616707.1:n.642G>T
ENST00000617583.4:n.239G>T
ENST00000621183.4:n.269G>T
ENST00000621470.4:n.229G>T
ENST00000622003.4:n.386G>T
NM_002437.4:c.213G>T	NP_002428.1:p.Lys71Asn
XM_005264326.2:c.213G>T	XP_005264383.1:p.Lys71Asn
XM_005264327.2:c.54G>T	XP_005264384.1:p.Lys18Asn
XM_006712021.2:c.165G>T	XP_006712084.1:p.Lys55Asn
XM_005264326.4:c.213G>T	XP_005264383.1:p.Lys71Asn
XM_006712021.3:c.165G>T	XP_006712084.1:p.Lys55Asn
XM_017004150.1:c.195G>T	XP_016859639.1:p.Lys65Asn
XM_017004151.1:c.165G>T	XP_016859640.1:p.Lys55Asn
XM_017004152.1:c.54G>T	XP_016859641.1:p.Lys18Asn
XM_024452913.1:c.165G>T	XP_024308681.1:p.Lys55Asn
NM_002437.5:c.213G>T MANE Select	NP_002428.1:p.Lys71Asn