Canonical Allele Identifier: CA1575481

Gene: MPV17

Linked Data

• dbSNP Id: rs779813081
• ExAC: 2:27532897 A / G
• gnomAD v2: 2-27532897-A-G
• gnomAD v4: 2-27310029-A-G
• MyVariant Identifiers: chr2:g.27532897A>G (hg19) ; chr2:g.27310029A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27310029A>G , CM000664.2:g.27310029A>G	GRCh38
NC_000002.11:g.27532897A>G , CM000664.1:g.27532897A>G	GRCh37
NC_000002.10:g.27386401A>G	NCBI36
NG_008075.1:g.17535T>C
NG_033055.1:g.3234T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.462-48T>C MANE Select	ENSP00000369383.1:n.462-48T>C
ENST00000233545.6:c.462-48T>C	ENSP00000233545.2:n.462-48T>C
ENST00000357186.10:c.294-48T>C	ENSP00000349713.6:n.294-48T>C
ENST00000380044.5:c.462-48T>C	ENSP00000369383.1:n.462-48T>C
ENST00000402310.5:c.409-48T>C	ENSP00000383955.1:n.409-48T>C
ENST00000402722.5:c.*41-48T>C	ENSP00000386000.1:n.*41-48T>C
ENST00000405076.5:c.273-48T>C	ENSP00000385175.1:n.273-48T>C
ENST00000405983.5:c.507-48T>C	ENSP00000384586.1:n.507-48T>C
ENST00000415514.5:c.*263-48T>C	ENSP00000388043.1:n.*263-48T>C
ENST00000426513.6:c.*127-48T>C	ENSP00000403824.2:n.*127-48T>C
ENST00000430991.5:c.296-48T>C
ENST00000620797.4:n.135-48T>C
ENST00000621183.4:n.765-48T>C
NM_002437.4:c.462-48T>C	NP_002428.1:n.462-48T>C
XM_005264326.2:c.462-48T>C	XP_005264383.1:n.462-48T>C
XM_005264327.2:c.303-48T>C	XP_005264384.1:n.303-48T>C
XM_006712021.2:c.414-48T>C	XP_006712084.1:n.414-48T>C
XM_005264326.4:c.462-48T>C	XP_005264383.1:n.462-48T>C
XM_006712021.3:c.414-48T>C	XP_006712084.1:n.414-48T>C
XM_017004150.1:c.444-48T>C	XP_016859639.1:n.444-48T>C
XM_017004151.1:c.414-48T>C	XP_016859640.1:n.414-48T>C
XM_017004152.1:c.303-48T>C	XP_016859641.1:n.303-48T>C
XM_024452913.1:c.414-48T>C	XP_024308681.1:n.414-48T>C
NM_002437.5:c.462-48T>C MANE Select	NP_002428.1:n.462-48T>C