Canonical Allele Identifier: CA44518379

Gene: MPV17

Linked Data

• dbSNP Id: rs759551123
• MyVariant Identifiers: chr2:g.27535504C>A (hg19) ; chr2:g.27312637C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312637C>A , CM000664.2:g.27312637C>A	GRCh38
NC_000002.11:g.27535504C>A , CM000664.1:g.27535504C>A	GRCh37
NC_000002.10:g.27389008C>A	NCBI36
NG_008075.1:g.14928G>T
NG_033055.1:g.627G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.279+43G>T MANE Select	ENSP00000369383.1:n.279+43G>T
ENST00000233545.6:c.279+43G>T	ENSP00000233545.2:n.279+43G>T
ENST00000357186.10:c.111+43G>T	ENSP00000349713.6:n.111+43G>T
ENST00000380044.5:c.279+43G>T	ENSP00000369383.1:n.279+43G>T
ENST00000402310.5:c.279+43G>T	ENSP00000383955.1:n.279+43G>T
ENST00000402722.5:c.244+43G>T	ENSP00000386000.1:n.244+43G>T
ENST00000403262.6:c.279+43G>T	ENSP00000385671.1:n.279+43G>T
ENST00000405076.5:c.186+357G>T	ENSP00000385175.1:n.186+357G>T
ENST00000405983.5:c.324+43G>T	ENSP00000384586.1:n.324+43G>T
ENST00000415514.5:c.*80+43G>T	ENSP00000388043.1:n.*80+43G>T
ENST00000426513.6:c.244+43G>T	ENSP00000403824.2:n.244+43G>T
ENST00000428910.5:c.201+43G>T	ENSP00000405235.1:n.201+43G>T
ENST00000430991.5:c.209+43G>T
ENST00000475085.1:n.307+43G>T
ENST00000616446.1:n.256+43G>T
ENST00000616707.1:n.751G>T
ENST00000617583.4:n.305+43G>T
ENST00000621183.4:n.335+43G>T
ENST00000621470.4:n.295+43G>T
ENST00000622003.4:n.452+43G>T
NM_002437.4:c.279+43G>T	NP_002428.1:n.279+43G>T
XM_005264326.2:c.279+43G>T	XP_005264383.1:n.279+43G>T
XM_005264327.2:c.120+43G>T	XP_005264384.1:n.120+43G>T
XM_006712021.2:c.231+43G>T	XP_006712084.1:n.231+43G>T
XM_005264326.4:c.279+43G>T	XP_005264383.1:n.279+43G>T
XM_006712021.3:c.231+43G>T	XP_006712084.1:n.231+43G>T
XM_017004150.1:c.261+43G>T	XP_016859639.1:n.261+43G>T
XM_017004151.1:c.231+43G>T	XP_016859640.1:n.231+43G>T
XM_017004152.1:c.120+43G>T	XP_016859641.1:n.120+43G>T
XM_024452913.1:c.231+43G>T	XP_024308681.1:n.231+43G>T
NM_002437.5:c.279+43G>T MANE Select	NP_002428.1:n.279+43G>T