Canonical Allele Identifier: CA322027

Gene: MPV17

Linked Data

• ClinVar Variation Id: 38352
• ClinVar RCV Id: RCV000031908 ; RCV000197566 ; RCV003466881
• dbSNP Id: rs267607263
• ExAC: 2:27535560 ATCT / A
• gnomAD v2: 2-27535560-ATCT-A
• gnomAD v3: 2-27312693-ATCT-A
• gnomAD v4: 2-27312693-ATCT-A
• MyVariant Identifiers: chr2:g.27535561_27535563del (hg19) ; chr2:g.27312694_27312696del (hg38)
• PubMed: PMID:22593919

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312699_27312701del , CM000664.2:g.27312699_27312701del	GRCh38
NC_000002.11:g.27535566_27535568del , CM000664.1:g.27535566_27535568del	GRCh37
NC_000002.10:g.27389070_27389072del	NCBI36
NG_008075.1:g.14869_14871del
NG_033055.1:g.568_570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.263_265del MANE Select	ENSP00000369383.1:p.Lys88del
ENST00000233545.6:c.263_265del	ENSP00000233545.2:p.Lys88del
ENST00000357186.10:c.95_97del	ENSP00000349713.6:p.Lys32del
ENST00000380044.5:c.263_265del	ENSP00000369383.1:p.Lys88del
ENST00000402310.5:c.263_265del	ENSP00000383955.1:p.Lys88del
ENST00000402722.5:c.228_230del	ENSP00000386000.1:p.Glu76del
ENST00000403262.6:c.263_265del	ENSP00000385671.1:p.Lys88del
ENST00000405076.5:c.186+298_186+300del	ENSP00000385175.1:n.186+298_186+300del
ENST00000405983.5:c.308_310del	ENSP00000384586.1:p.Lys103del
ENST00000415514.5:c.*64_*66del	ENSP00000388043.1:n.*64_*66del
ENST00000426513.6:c.228_230del	ENSP00000403824.2:p.Glu76del
ENST00000428910.5:c.185_187del	ENSP00000405235.1:p.Lys62del
ENST00000430991.5:c.193_195del
ENST00000475085.1:n.291_293del
ENST00000616446.1:n.240_242del
ENST00000616707.1:n.692_694del
ENST00000617583.4:n.289_291del
ENST00000621183.4:n.319_321del
ENST00000621470.4:n.279_281del
ENST00000622003.4:n.436_438del
NM_002437.4:c.263_265del	NP_002428.1:p.Lys88del
XM_005264326.2:c.263_265del	XP_005264383.1:p.Lys88del
XM_005264327.2:c.104_106del	XP_005264384.1:p.Lys35del
XM_006712021.2:c.215_217del	XP_006712084.1:p.Lys72del
XM_005264326.4:c.263_265del	XP_005264383.1:p.Lys88del
XM_006712021.3:c.215_217del	XP_006712084.1:p.Lys72del
XM_017004150.1:c.245_247del	XP_016859639.1:p.Lys82del
XM_017004151.1:c.215_217del	XP_016859640.1:p.Lys72del
XM_017004152.1:c.104_106del	XP_016859641.1:p.Lys35del
XM_024452913.1:c.215_217del	XP_024308681.1:p.Lys72del
NM_002437.5:c.263_265del MANE Select	NP_002428.1:p.Lys88del