Canonical Allele Identifier: CA394698039

Gene: PMM2

Linked Data

Genomic Alleles

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

Transcript Alleles

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