Canonical Allele Identifier: CA394698040

Gene: PMM2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8813085C>G , CM000678.2:g.8813085C>G	GRCh38
NC_000016.9:g.8906942C>G , CM000678.1:g.8906942C>G	GRCh37
NC_000016.8:g.8814443C>G	NCBI36
NG_009209.1:g.20273C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3786C>G
ENST00000682008.1:c.618C>G	ENSP00000507849.1:p.Phe206Leu
ENST00000682393.1:c.*236C>G	ENSP00000506774.1:n.*236C>G
ENST00000683094.1:c.*240C>G	ENSP00000508230.1:n.*240C>G
ENST00000683274.1:c.*158C>G	ENSP00000507262.1:n.*158C>G
ENST00000683435.1:c.*514C>G	ENSP00000508092.1:n.*514C>G
ENST00000268261.9:c.618C>G MANE Select	ENSP00000268261.4:p.Phe206Leu
ENST00000268261.8:c.618C>G	ENSP00000268261.4:p.Phe206Leu
ENST00000562318.5:c.*340C>G	ENSP00000454395.1:n.*340C>G
ENST00000565221.5:c.*236C>G	ENSP00000457932.1:n.*236C>G
ENST00000566540.5:c.*240C>G	ENSP00000454284.1:n.*240C>G
ENST00000566604.5:c.*158C>G	ENSP00000456774.1:n.*158C>G
ENST00000566983.5:c.537C>G	ENSP00000457956.1:p.Phe179Leu
ENST00000567697.1:n.3786C>G
ENST00000569958.5:c.345C>G	ENSP00000456302.1:p.Phe115Leu
ENST00000570076.5:c.*76C>G	ENSP00000456961.1:n.*76C>G
ENST00000570134.5:c.*240C>G	ENSP00000456275.1:n.*240C>G
NM_000303.2:c.618C>G	NP_000294.1:p.Phe206Leu
XM_005255372.3:c.618C>G	XP_005255429.1:p.Phe206Leu
XM_005255373.3:c.369C>G	XP_005255430.1:p.Phe123Leu
XM_005255374.3:c.369C>G	XP_005255431.1:p.Phe123Leu
XM_011522538.1:c.618C>G	XP_011520840.1:p.Phe206Leu
XM_011522539.1:c.243C>G	XP_011520841.1:p.Phe81Leu
XM_005255374.4:c.369C>G	XP_005255431.1:p.Phe123Leu
NM_000303.3:c.618C>G MANE Select	NP_000294.1:p.Phe206Leu