Canonical Allele Identifier: CA1575646

Gene: MPV17

Linked Data

• dbSNP Id: rs752113118
• ExAC: 2:27535817 A / AGT
• gnomAD v2: 2-27535817-A-AGT
• MyVariant Identifiers: chr2:g.27535817_27535818insGT (hg19) ; chr2:g.27312950_27312951insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312950_27312951insGT , CM000664.2:g.27312950_27312951insGT	GRCh38
NC_000002.11:g.27535817_27535818insGT , CM000664.1:g.27535817_27535818insGT	GRCh37
NC_000002.10:g.27389321_27389322insGT	NCBI36
NG_008075.1:g.14614_14615insAC
NG_033055.1:g.313_314insAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.186+43_186+44insAC MANE Select	ENSP00000369383.1:n.186+43_186+44insAC
ENST00000233545.6:c.186+43_186+44insAC	ENSP00000233545.2:n.186+43_186+44insAC
ENST00000357186.10:c.19-179_19-178insAC	ENSP00000349713.6:n.19-179_19-178insAC
ENST00000380044.5:c.186+43_186+44insAC	ENSP00000369383.1:n.186+43_186+44insAC
ENST00000402310.5:c.186+43_186+44insAC	ENSP00000383955.1:n.186+43_186+44insAC
ENST00000402722.5:c.151+43_151+44insAC	ENSP00000386000.1:n.151+43_151+44insAC
ENST00000403262.6:c.186+43_186+44insAC	ENSP00000385671.1:n.186+43_186+44insAC
ENST00000405076.5:c.186+43_186+44insAC	ENSP00000385175.1:n.186+43_186+44insAC
ENST00000405983.5:c.231+43_231+44insAC	ENSP00000384586.1:n.231+43_231+44insAC
ENST00000415514.5:c.228-179_228-178insAC	ENSP00000388043.1:n.228-179_228-178insAC
ENST00000426513.6:c.151+43_151+44insAC	ENSP00000403824.2:n.151+43_151+44insAC
ENST00000428910.5:c.108+43_108+44insAC	ENSP00000405235.1:n.108+43_108+44insAC
ENST00000430991.5:c.116+43_116+44insAC
ENST00000475085.1:n.36_37insAC
ENST00000616446.1:n.163+43_163+44insAC
ENST00000616707.1:n.437_438insAC
ENST00000617583.4:n.212+43_212+44insAC
ENST00000621183.4:n.242+43_242+44insAC
ENST00000621470.4:n.202+43_202+44insAC
ENST00000622003.4:n.359+43_359+44insAC
NM_002437.4:c.186+43_186+44insAC	NP_002428.1:n.186+43_186+44insAC
XM_005264326.2:c.186+43_186+44insAC	XP_005264383.1:n.186+43_186+44insAC
XM_005264327.2:c.27+43_27+44insAC	XP_005264384.1:n.27+43_27+44insAC
XM_006712021.2:c.138+43_138+44insAC	XP_006712084.1:n.138+43_138+44insAC
XM_005264326.4:c.186+43_186+44insAC	XP_005264383.1:n.186+43_186+44insAC
XM_006712021.3:c.138+43_138+44insAC	XP_006712084.1:n.138+43_138+44insAC
XM_017004150.1:c.168+43_168+44insAC	XP_016859639.1:n.168+43_168+44insAC
XM_017004151.1:c.138+43_138+44insAC	XP_016859640.1:n.138+43_138+44insAC
XM_017004152.1:c.27+43_27+44insAC	XP_016859641.1:n.27+43_27+44insAC
XM_024452913.1:c.138+43_138+44insAC	XP_024308681.1:n.138+43_138+44insAC
NM_002437.5:c.186+43_186+44insAC MANE Select	NP_002428.1:n.186+43_186+44insAC