Canonical Allele Identifier: CA493513360

Gene: PMM2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811088C>T , CM000678.2:g.8811088C>T	GRCh38
NC_000016.9:g.8904945C>T , CM000678.1:g.8904945C>T	GRCh37
NC_000016.8:g.8812446C>T	NCBI36
NG_009209.1:g.18276C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3525C>T
ENST00000682008.1:c.357C>T	ENSP00000507849.1:p.Phe119=
ENST00000682393.1:c.188C>T	ENSP00000506774.1:p.Ser63Leu
ENST00000683094.1:c.*70-550C>T	ENSP00000508230.1:n.*70-550C>T
ENST00000683274.1:c.348-550C>T	ENSP00000507262.1:n.348-550C>T
ENST00000683435.1:c.*344-550C>T	ENSP00000508092.1:n.*344-550C>T
ENST00000268261.9:c.357C>T MANE Select	ENSP00000268261.4:p.Phe119=
ENST00000268261.8:c.357C>T	ENSP00000268261.4:p.Phe119=
ENST00000562318.5:c.*79C>T	ENSP00000454395.1:n.*79C>T
ENST00000564069.1:c.328C>T
ENST00000565221.5:c.188C>T	ENSP00000457932.1:p.Ser63Leu
ENST00000565896.5:c.*155C>T	ENSP00000456024.1:n.*155C>T
ENST00000566540.5:c.*70-550C>T	ENSP00000454284.1:n.*70-550C>T
ENST00000566604.5:c.348-550C>T	ENSP00000456774.1:n.348-550C>T
ENST00000566983.5:c.276C>T	ENSP00000457956.1:p.Phe92=
ENST00000567697.1:n.3525C>T
ENST00000568602.5:c.*210C>T	ENSP00000455066.1:n.*210C>T
ENST00000569958.5:c.179-554C>T	ENSP00000456302.1:n.179-554C>T
ENST00000570076.5:c.179-550C>T	ENSP00000456961.1:n.179-550C>T
ENST00000570134.5:c.*70-550C>T	ENSP00000456275.1:n.*70-550C>T
NM_000303.2:c.357C>T	NP_000294.1:p.Phe119=
XM_005255372.3:c.357C>T	XP_005255429.1:p.Phe119=
XM_005255373.3:c.108C>T	XP_005255430.1:p.Phe36=
XM_005255374.3:c.108C>T	XP_005255431.1:p.Phe36=
XM_011522538.1:c.357C>T	XP_011520840.1:p.Phe119=
XM_011522539.1:c.-19C>T	XP_011520841.1:n.-19C>T
XM_005255374.4:c.108C>T	XP_005255431.1:p.Phe36=
NM_000303.3:c.357C>T MANE Select	NP_000294.1:p.Phe119=