Canonical Allele Identifier: CA44517415

Gene: MPV17

Linked Data

• dbSNP Id: rs567946440
• gnomAD v3: 2-27311847-A-G
• gnomAD v4: 2-27311847-A-G
• MyVariant Identifiers: chr2:g.27534715A>G (hg19) ; chr2:g.27311847A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311847A>G , CM000664.2:g.27311847A>G	GRCh38
NC_000002.11:g.27534715A>G , CM000664.1:g.27534715A>G	GRCh37
NC_000002.10:g.27388219A>G	NCBI36
NG_008075.1:g.15717T>C
NG_033055.1:g.1416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.461+52T>C MANE Select	ENSP00000369383.1:n.461+52T>C
ENST00000233545.6:c.461+52T>C	ENSP00000233545.2:n.461+52T>C
ENST00000357186.10:c.293+52T>C	ENSP00000349713.6:n.293+52T>C
ENST00000380044.5:c.461+52T>C	ENSP00000369383.1:n.461+52T>C
ENST00000402310.5:c.408+367T>C	ENSP00000383955.1:n.408+367T>C
ENST00000402722.5:c.*40+647T>C	ENSP00000386000.1:n.*40+647T>C
ENST00000403262.6:c.461+52T>C	ENSP00000385671.1:n.461+52T>C
ENST00000405076.5:c.272+52T>C	ENSP00000385175.1:n.272+52T>C
ENST00000405983.5:c.506+52T>C	ENSP00000384586.1:n.506+52T>C
ENST00000415514.5:c.*262+52T>C	ENSP00000388043.1:n.*262+52T>C
ENST00000426513.6:c.*126+52T>C	ENSP00000403824.2:n.*126+52T>C
ENST00000430991.5:c.295+52T>C
ENST00000616707.1:n.1541T>C
ENST00000620797.4:n.134+52T>C
ENST00000621183.4:n.764+52T>C
NM_002437.4:c.461+52T>C	NP_002428.1:n.461+52T>C
XM_005264326.2:c.461+52T>C	XP_005264383.1:n.461+52T>C
XM_005264327.2:c.302+52T>C	XP_005264384.1:n.302+52T>C
XM_006712021.2:c.413+52T>C	XP_006712084.1:n.413+52T>C
XM_005264326.4:c.461+52T>C	XP_005264383.1:n.461+52T>C
XM_006712021.3:c.413+52T>C	XP_006712084.1:n.413+52T>C
XM_017004150.1:c.443+52T>C	XP_016859639.1:n.443+52T>C
XM_017004151.1:c.413+52T>C	XP_016859640.1:n.413+52T>C
XM_017004152.1:c.302+52T>C	XP_016859641.1:n.302+52T>C
XM_024452913.1:c.413+52T>C	XP_024308681.1:n.413+52T>C
NM_002437.5:c.461+52T>C MANE Select	NP_002428.1:n.461+52T>C