Canonical Allele Identifier: CA346205294

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532776A>G (hg19) ; chr2:g.27309908A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309908A>G , CM000664.2:g.27309908A>G	GRCh38
NC_000002.11:g.27532776A>G , CM000664.1:g.27532776A>G	GRCh37
NC_000002.10:g.27386280A>G	NCBI36
NG_008075.1:g.17656T>C
NG_033055.1:g.3355T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.*4T>C MANE Select	ENSP00000369383.1:n.*4T>C
ENST00000233545.6:c.*4T>C	ENSP00000233545.2:n.*4T>C
ENST00000357186.10:c.*4T>C	ENSP00000349713.6:n.*4T>C
ENST00000380044.5:c.*4T>C	ENSP00000369383.1:n.*4T>C
ENST00000402310.5:c.482T>C	ENSP00000383955.1:p.Leu161Pro
ENST00000402722.5:c.*114T>C	ENSP00000386000.1:n.*114T>C
ENST00000405076.5:c.*4T>C	ENSP00000385175.1:n.*4T>C
ENST00000405983.5:c.*4T>C	ENSP00000384586.1:n.*4T>C
ENST00000415514.5:c.*336T>C	ENSP00000388043.1:n.*336T>C
ENST00000426513.6:c.*200T>C	ENSP00000403824.2:n.*200T>C
ENST00000430991.5:c.369T>C
ENST00000620797.4:n.208T>C
ENST00000621183.4:n.838T>C
NM_002437.4:c.*4T>C	NP_002428.1:n.*4T>C
XM_005264326.2:c.*4T>C	XP_005264383.1:n.*4T>C
XM_005264327.2:c.*4T>C	XP_005264384.1:n.*4T>C
XM_006712021.2:c.*4T>C	XP_006712084.1:n.*4T>C
XM_005264326.4:c.*4T>C	XP_005264383.1:n.*4T>C
XM_006712021.3:c.*4T>C	XP_006712084.1:n.*4T>C
XM_017004150.1:c.*4T>C	XP_016859639.1:n.*4T>C
XM_017004151.1:c.*4T>C	XP_016859640.1:n.*4T>C
XM_017004152.1:c.*4T>C	XP_016859641.1:n.*4T>C
XM_024452913.1:c.*4T>C	XP_024308681.1:n.*4T>C
NM_002437.5:c.*4T>C MANE Select	NP_002428.1:n.*4T>C