Canonical Allele Identifier: CA394698034

Gene: PMM2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8813083T>C , CM000678.2:g.8813083T>C	GRCh38
NC_000016.9:g.8906940T>C , CM000678.1:g.8906940T>C	GRCh37
NC_000016.8:g.8814441T>C	NCBI36
NG_009209.1:g.20271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3784T>C
ENST00000682008.1:c.616T>C	ENSP00000507849.1:p.Phe206Leu
ENST00000682393.1:c.*234T>C	ENSP00000506774.1:n.*234T>C
ENST00000683094.1:c.*238T>C	ENSP00000508230.1:n.*238T>C
ENST00000683274.1:c.*156T>C	ENSP00000507262.1:n.*156T>C
ENST00000683435.1:c.*512T>C	ENSP00000508092.1:n.*512T>C
ENST00000268261.9:c.616T>C MANE Select	ENSP00000268261.4:p.Phe206Leu
ENST00000268261.8:c.616T>C	ENSP00000268261.4:p.Phe206Leu
ENST00000562318.5:c.*338T>C	ENSP00000454395.1:n.*338T>C
ENST00000565221.5:c.*234T>C	ENSP00000457932.1:n.*234T>C
ENST00000566540.5:c.*238T>C	ENSP00000454284.1:n.*238T>C
ENST00000566604.5:c.*156T>C	ENSP00000456774.1:n.*156T>C
ENST00000566983.5:c.535T>C	ENSP00000457956.1:p.Phe179Leu
ENST00000567697.1:n.3784T>C
ENST00000569958.5:c.343T>C	ENSP00000456302.1:p.Phe115Leu
ENST00000570076.5:c.*74T>C	ENSP00000456961.1:n.*74T>C
ENST00000570134.5:c.*238T>C	ENSP00000456275.1:n.*238T>C
NM_000303.2:c.616T>C	NP_000294.1:p.Phe206Leu
XM_005255372.3:c.616T>C	XP_005255429.1:p.Phe206Leu
XM_005255373.3:c.367T>C	XP_005255430.1:p.Phe123Leu
XM_005255374.3:c.367T>C	XP_005255431.1:p.Phe123Leu
XM_011522538.1:c.616T>C	XP_011520840.1:p.Phe206Leu
XM_011522539.1:c.241T>C	XP_011520841.1:p.Phe81Leu
XM_005255374.4:c.367T>C	XP_005255431.1:p.Phe123Leu
NM_000303.3:c.616T>C MANE Select	NP_000294.1:p.Phe206Leu