Canonical Allele Identifier: CA10606566

Gene: MPV17

Linked Data

• ClinVar Variation Id: 289822
• ClinVar RCV Id: RCV000337973
• dbSNP Id: rs886044280
• gnomAD v2: 2-27534820-C-G
• gnomAD v3: 2-27311952-C-G
• gnomAD v4: 2-27311952-C-G
• MyVariant Identifiers: chr2:g.27534820C>G (hg19) ; chr2:g.27311952C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311952C>G , CM000664.2:g.27311952C>G	GRCh38
NC_000002.11:g.27534820C>G , CM000664.1:g.27534820C>G	GRCh37
NC_000002.10:g.27388324C>G	NCBI36
NG_008075.1:g.15612G>C
NG_033055.1:g.1311G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.409-1G>C MANE Select	ENSP00000369383.1:n.409-1G>C
ENST00000233545.6:c.409-1G>C	ENSP00000233545.2:n.409-1G>C
ENST00000357186.10:c.241-1G>C	ENSP00000349713.6:n.241-1G>C
ENST00000380044.5:c.409-1G>C	ENSP00000369383.1:n.409-1G>C
ENST00000402310.5:c.408+262G>C	ENSP00000383955.1:n.408+262G>C
ENST00000402722.5:c.*40+542G>C	ENSP00000386000.1:n.*40+542G>C
ENST00000403262.6:c.409-1G>C	ENSP00000385671.1:n.409-1G>C
ENST00000405076.5:c.220-1G>C	ENSP00000385175.1:n.220-1G>C
ENST00000405983.5:c.454-1G>C	ENSP00000384586.1:n.454-1G>C
ENST00000415514.5:c.*210-1G>C	ENSP00000388043.1:n.*210-1G>C
ENST00000426513.6:c.*74-1G>C	ENSP00000403824.2:n.*74-1G>C
ENST00000428910.5:c.331-1G>C	ENSP00000405235.1:n.331-1G>C
ENST00000430991.5:c.243-1G>C
ENST00000616707.1:n.1436G>C
ENST00000617583.4:n.943G>C
ENST00000620797.4:n.82-1G>C
ENST00000621183.4:n.712-1G>C
NM_002437.4:c.409-1G>C	NP_002428.1:n.409-1G>C
XM_005264326.2:c.409-1G>C	XP_005264383.1:n.409-1G>C
XM_005264327.2:c.250-1G>C	XP_005264384.1:n.250-1G>C
XM_006712021.2:c.361-1G>C	XP_006712084.1:n.361-1G>C
XM_005264326.4:c.409-1G>C	XP_005264383.1:n.409-1G>C
XM_006712021.3:c.361-1G>C	XP_006712084.1:n.361-1G>C
XM_017004150.1:c.391-1G>C	XP_016859639.1:n.391-1G>C
XM_017004151.1:c.361-1G>C	XP_016859640.1:n.361-1G>C
XM_017004152.1:c.250-1G>C	XP_016859641.1:n.250-1G>C
XM_024452913.1:c.361-1G>C	XP_024308681.1:n.361-1G>C
NM_002437.5:c.409-1G>C MANE Select	NP_002428.1:n.409-1G>C