Canonical Allele Identifier: CA10613496

Gene: MPV17

Linked Data

• ClinVar Variation Id: 335520
• ClinVar RCV Id: RCV003227475
• dbSNP Id: rs866206271
• gnomAD v2: 2-27532420-C-G
• gnomAD v3: 2-27309552-C-G
• gnomAD v4: 2-27309552-C-G
• MyVariant Identifiers: chr2:g.27532420C>G (hg19) ; chr2:g.27309552C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309552C>G , CM000664.2:g.27309552C>G	GRCh38
NC_000002.11:g.27532420C>G , CM000664.1:g.27532420C>G	GRCh37
NC_000002.10:g.27385924C>G	NCBI36
NG_008075.1:g.18012G>C
NG_033055.1:g.3711G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.*360G>C MANE Select	ENSP00000369383.1:n.*360G>C
ENST00000233545.6:c.*360G>C	ENSP00000233545.2:n.*360G>C
ENST00000357186.10:c.*360G>C	ENSP00000349713.6:n.*360G>C
ENST00000380044.5:c.*360G>C	ENSP00000369383.1:n.*360G>C
ENST00000402310.5:c.*325G>C	ENSP00000383955.1:n.*325G>C
ENST00000402722.5:c.*470G>C	ENSP00000386000.1:n.*470G>C
ENST00000426513.6:c.*556G>C	ENSP00000403824.2:n.*556G>C
ENST00000620797.4:n.564G>C
NM_002437.4:c.*360G>C	NP_002428.1:n.*360G>C
XM_005264326.2:c.*360G>C	XP_005264383.1:n.*360G>C
XM_005264327.2:c.*360G>C	XP_005264384.1:n.*360G>C
XM_006712021.2:c.*360G>C	XP_006712084.1:n.*360G>C
XM_005264326.4:c.*360G>C	XP_005264383.1:n.*360G>C
XM_006712021.3:c.*360G>C	XP_006712084.1:n.*360G>C
XM_017004150.1:c.*360G>C	XP_016859639.1:n.*360G>C
XM_017004151.1:c.*360G>C	XP_016859640.1:n.*360G>C
XM_017004152.1:c.*360G>C	XP_016859641.1:n.*360G>C
XM_024452913.1:c.*360G>C	XP_024308681.1:n.*360G>C
NM_002437.5:c.*360G>C MANE Select	NP_002428.1:n.*360G>C