Canonical Allele Identifier: CA346205376

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532809A>C (hg19) ; chr2:g.27309941A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309941A>C , CM000664.2:g.27309941A>C	GRCh38
NC_000002.11:g.27532809A>C , CM000664.1:g.27532809A>C	GRCh37
NC_000002.10:g.27386313A>C	NCBI36
NG_008075.1:g.17623T>G
NG_033055.1:g.3322T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.502T>G MANE Select	ENSP00000369383.1:p.Tyr168Asp
ENST00000233545.6:c.502T>G	ENSP00000233545.2:p.Tyr168Asp
ENST00000357186.10:c.334T>G	ENSP00000349713.6:p.Tyr112Asp
ENST00000380044.5:c.502T>G	ENSP00000369383.1:p.Tyr168Asp
ENST00000402310.5:c.449T>G	ENSP00000383955.1:p.Leu150Arg
ENST00000402722.5:c.*81T>G	ENSP00000386000.1:n.*81T>G
ENST00000405076.5:c.313T>G	ENSP00000385175.1:p.Tyr105Asp
ENST00000405983.5:c.547T>G	ENSP00000384586.1:p.Tyr183Asp
ENST00000415514.5:c.*303T>G	ENSP00000388043.1:n.*303T>G
ENST00000426513.6:c.*167T>G	ENSP00000403824.2:n.*167T>G
ENST00000430991.5:c.336T>G
ENST00000620797.4:n.175T>G
ENST00000621183.4:n.805T>G
NM_002437.4:c.502T>G	NP_002428.1:p.Tyr168Asp
XM_005264326.2:c.502T>G	XP_005264383.1:p.Tyr168Asp
XM_005264327.2:c.343T>G	XP_005264384.1:p.Tyr115Asp
XM_006712021.2:c.454T>G	XP_006712084.1:p.Tyr152Asp
XM_005264326.4:c.502T>G	XP_005264383.1:p.Tyr168Asp
XM_006712021.3:c.454T>G	XP_006712084.1:p.Tyr152Asp
XM_017004150.1:c.484T>G	XP_016859639.1:p.Tyr162Asp
XM_017004151.1:c.454T>G	XP_016859640.1:p.Tyr152Asp
XM_017004152.1:c.343T>G	XP_016859641.1:p.Tyr115Asp
XM_024452913.1:c.454T>G	XP_024308681.1:p.Tyr152Asp
NM_002437.5:c.502T>G MANE Select	NP_002428.1:p.Tyr168Asp