Canonical Allele Identifier: CA44517406

Gene: MPV17

Linked Data

• dbSNP Id: rs1013267692
• gnomAD v2: 2-27534704-T-C
• gnomAD v3: 2-27311836-T-C
• gnomAD v4: 2-27311836-T-C
• MyVariant Identifiers: chr2:g.27534704T>C (hg19) ; chr2:g.27311836T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311836T>C , CM000664.2:g.27311836T>C	GRCh38
NC_000002.11:g.27534704T>C , CM000664.1:g.27534704T>C	GRCh37
NC_000002.10:g.27388208T>C	NCBI36
NG_008075.1:g.15728A>G
NG_033055.1:g.1427A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.461+63A>G MANE Select	ENSP00000369383.1:n.461+63A>G
ENST00000233545.6:c.461+63A>G	ENSP00000233545.2:n.461+63A>G
ENST00000357186.10:c.293+63A>G	ENSP00000349713.6:n.293+63A>G
ENST00000380044.5:c.461+63A>G	ENSP00000369383.1:n.461+63A>G
ENST00000402310.5:c.408+378A>G	ENSP00000383955.1:n.408+378A>G
ENST00000402722.5:c.*40+658A>G	ENSP00000386000.1:n.*40+658A>G
ENST00000403262.6:c.461+63A>G	ENSP00000385671.1:n.461+63A>G
ENST00000405076.5:c.272+63A>G	ENSP00000385175.1:n.272+63A>G
ENST00000405983.5:c.506+63A>G	ENSP00000384586.1:n.506+63A>G
ENST00000415514.5:c.*262+63A>G	ENSP00000388043.1:n.*262+63A>G
ENST00000426513.6:c.*126+63A>G	ENSP00000403824.2:n.*126+63A>G
ENST00000430991.5:c.295+63A>G
ENST00000616707.1:n.1552A>G
ENST00000620797.4:n.134+63A>G
ENST00000621183.4:n.764+63A>G
NM_002437.4:c.461+63A>G	NP_002428.1:n.461+63A>G
XM_005264326.2:c.461+63A>G	XP_005264383.1:n.461+63A>G
XM_005264327.2:c.302+63A>G	XP_005264384.1:n.302+63A>G
XM_006712021.2:c.413+63A>G	XP_006712084.1:n.413+63A>G
XM_005264326.4:c.461+63A>G	XP_005264383.1:n.461+63A>G
XM_006712021.3:c.413+63A>G	XP_006712084.1:n.413+63A>G
XM_017004150.1:c.443+63A>G	XP_016859639.1:n.443+63A>G
XM_017004151.1:c.413+63A>G	XP_016859640.1:n.413+63A>G
XM_017004152.1:c.302+63A>G	XP_016859641.1:n.302+63A>G
XM_024452913.1:c.413+63A>G	XP_024308681.1:n.413+63A>G
NM_002437.5:c.461+63A>G MANE Select	NP_002428.1:n.461+63A>G