Canonical Allele Identifier: CA277492093

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8813163A>G , CM000678.2:g.8813163A>G	GRCh38
NC_000016.9:g.8907020A>G , CM000678.1:g.8907020A>G	GRCh37
NC_000016.8:g.8814521A>G	NCBI36
NG_009209.1:g.20351A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.639+57A>G MANE Select	NP_000294.1:n.639+57A>G
ENST00000268261.9:c.639+57A>G MANE Select	ENSP00000268261.4:n.639+57A>G
NM_000303.2:c.639+57A>G	NP_000294.1:n.639+57A>G
ENST00000268261.8:c.639+57A>G	ENSP00000268261.4:n.639+57A>G
ENST00000562318.5:c.*361+57A>G	ENSP00000454395.1:n.*361+57A>G
ENST00000565221.5:c.*257+57A>G	ENSP00000457932.1:n.*257+57A>G
ENST00000566540.5:c.*261+57A>G	ENSP00000454284.1:n.*261+57A>G
ENST00000566604.5:c.*179+57A>G	ENSP00000456774.1:n.*179+57A>G
ENST00000566983.5:c.558+57A>G	ENSP00000457956.1:n.558+57A>G
ENST00000567697.1:n.3807+57A>G
ENST00000567697.2:n.3807+57A>G
ENST00000569958.5:c.366+57A>G	ENSP00000456302.1:n.366+57A>G
ENST00000570076.5:c.*97+57A>G	ENSP00000456961.1:n.*97+57A>G
ENST00000570134.5:c.*261+57A>G	ENSP00000456275.1:n.*261+57A>G
ENST00000682008.1:c.*9A>G	ENSP00000507849.1:n.*9A>G
ENST00000682393.1:c.*257+57A>G	ENSP00000506774.1:n.*257+57A>G
ENST00000683094.1:c.*261+57A>G	ENSP00000508230.1:n.*261+57A>G
ENST00000683274.1:c.*179+57A>G	ENSP00000507262.1:n.*179+57A>G
ENST00000683435.1:c.*535+57A>G	ENSP00000508092.1:n.*535+57A>G
XM_005255372.3:c.639+57A>G	XP_005255429.1:n.639+57A>G
XM_005255373.3:c.390+57A>G	XP_005255430.1:n.390+57A>G
XM_005255374.3:c.390+57A>G	XP_005255431.1:n.390+57A>G
XM_005255374.4:c.390+57A>G	XP_005255431.1:n.390+57A>G
XM_011522538.1:c.639+57A>G	XP_011520840.1:n.639+57A>G
XM_011522539.1:c.264+57A>G	XP_011520841.1:n.264+57A>G