Canonical Allele Identifier: CA10613499

Gene: MPV17

Linked Data

• ClinVar Variation Id: 335529
• ClinVar RCV Id: RCV000265482
• dbSNP Id: rs886055898
• MyVariant Identifiers: chr2:g.27545924C>G (hg19) ; chr2:g.27323057C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323057C>G , CM000664.2:g.27323057C>G	GRCh38
NC_000002.11:g.27545924C>G , CM000664.1:g.27545924C>G	GRCh37
NC_000002.10:g.27399428C>G	NCBI36
NG_008075.1:g.4508G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.-11G>C MANE Select	ENSP00000369383.1:n.-11G>C
ENST00000357186.10:c.18+1376G>C	ENSP00000349713.6:n.18+1376G>C
ENST00000380044.5:c.-11G>C	ENSP00000369383.1:n.-11G>C
ENST00000399052.8:c.-11G>C	ENSP00000382006.4:n.-11G>C
ENST00000402722.5:c.-11G>C	ENSP00000386000.1:n.-11G>C
ENST00000403262.6:c.-11G>C	ENSP00000385671.1:n.-11G>C
ENST00000405076.5:c.-11G>C	ENSP00000385175.1:n.-11G>C
ENST00000405983.5:c.-11G>C	ENSP00000384586.1:n.-11G>C
ENST00000415514.5:c.-11G>C	ENSP00000388043.1:n.-11G>C
ENST00000426513.6:c.-11G>C	ENSP00000403824.2:n.-11G>C
ENST00000428910.5:c.-213G>C	ENSP00000405235.1:n.-213G>C
ENST00000486898.1:n.41G>C
ENST00000494436.1:n.21G>C
ENST00000617583.4:n.16G>C
ENST00000621183.4:n.46G>C
ENST00000621470.4:n.41G>C
ENST00000622003.4:n.6G>C
NM_002437.4:c.-11G>C	NP_002428.1:n.-11G>C
XM_005264327.2:c.-135G>C	XP_005264384.1:n.-135G>C
XM_006712021.2:c.-216G>C	XP_006712084.1:n.-216G>C
XM_005264326.4:c.-73G>C	XP_005264383.1:n.-73G>C
XM_006712021.3:c.-216G>C	XP_006712084.1:n.-216G>C
XM_017004150.1:c.-3263G>C	XP_016859639.1:n.-3263G>C
XM_024452913.1:c.-278G>C	XP_024308681.1:n.-278G>C
NM_002437.5:c.-11G>C MANE Select	NP_002428.1:n.-11G>C