Canonical Allele Identifier: CA319928

Gene: MPV17

Linked Data

• ClinVar Variation Id: 38347
• ClinVar RCV Id: RCV000031903 ; RCV000195573 ; RCV003466880
• dbSNP Id: rs147952488
• ExAC: 2:27535859 A / G
• gnomAD v2: 2-27535859-A-G
• gnomAD v3: 2-27312992-A-G
• gnomAD v4: 2-27312992-A-G
• MyVariant Identifiers: chr2:g.27535859A>G (hg19) ; chr2:g.27312992A>G (hg38)
• PubMed: PMID:22593919

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312992A>G , CM000664.2:g.27312992A>G	GRCh38
NC_000002.11:g.27535859A>G , CM000664.1:g.27535859A>G	GRCh37
NC_000002.10:g.27389363A>G	NCBI36
NG_008075.1:g.14573T>C
NG_033055.1:g.272T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.186+2T>C MANE Select	ENSP00000369383.1:n.186+2T>C
ENST00000233545.6:c.186+2T>C	ENSP00000233545.2:n.186+2T>C
ENST00000357186.10:c.19-220T>C	ENSP00000349713.6:n.19-220T>C
ENST00000380044.5:c.186+2T>C	ENSP00000369383.1:n.186+2T>C
ENST00000402310.5:c.186+2T>C	ENSP00000383955.1:n.186+2T>C
ENST00000402722.5:c.151+2T>C	ENSP00000386000.1:n.151+2T>C
ENST00000403262.6:c.186+2T>C	ENSP00000385671.1:n.186+2T>C
ENST00000405076.5:c.186+2T>C	ENSP00000385175.1:n.186+2T>C
ENST00000405983.5:c.231+2T>C	ENSP00000384586.1:n.231+2T>C
ENST00000415514.5:c.228-220T>C	ENSP00000388043.1:n.228-220T>C
ENST00000426513.6:c.151+2T>C	ENSP00000403824.2:n.151+2T>C
ENST00000428910.5:c.108+2T>C	ENSP00000405235.1:n.108+2T>C
ENST00000430991.5:c.116+2T>C
ENST00000616446.1:n.163+2T>C
ENST00000616707.1:n.396T>C
ENST00000617583.4:n.212+2T>C
ENST00000621183.4:n.242+2T>C
ENST00000621470.4:n.202+2T>C
ENST00000622003.4:n.359+2T>C
NM_002437.4:c.186+2T>C	NP_002428.1:n.186+2T>C
XM_005264326.2:c.186+2T>C	XP_005264383.1:n.186+2T>C
XM_005264327.2:c.27+2T>C	XP_005264384.1:n.27+2T>C
XM_006712021.2:c.138+2T>C	XP_006712084.1:n.138+2T>C
XM_005264326.4:c.186+2T>C	XP_005264383.1:n.186+2T>C
XM_006712021.3:c.138+2T>C	XP_006712084.1:n.138+2T>C
XM_017004150.1:c.168+2T>C	XP_016859639.1:n.168+2T>C
XM_017004151.1:c.138+2T>C	XP_016859640.1:n.138+2T>C
XM_017004152.1:c.27+2T>C	XP_016859641.1:n.27+2T>C
XM_024452913.1:c.138+2T>C	XP_024308681.1:n.138+2T>C
NM_002437.5:c.186+2T>C MANE Select	NP_002428.1:n.186+2T>C