Canonical Allele Identifier: CA2206158208
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8847962G= , CM000678.2:g.8847962G= GRCh38
NC_000016.9:g.8941819G= , CM000678.1:g.8941819G= GRCh37
NC_000016.8:g.8849320G= NCBI36
NG_009209.1:g.55150G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.4046G=
ENST00000682393.1:c.*258-1407G= ENSP00000506774.1:n.*258-1407G=
ENST00000683094.1:c.*262-1407G= ENSP00000508230.1:n.*262-1407G=
ENST00000683274.1:c.*180-1407G= ENSP00000507262.1:n.*180-1407G=
ENST00000683435.1:c.*774G= ENSP00000508092.1:n.*774G=
ENST00000268261.9:c.*137G= MANE Select ENSP00000268261.4:n.*137G=
ENST00000268261.8:c.*137G= ENSP00000268261.4:n.*137G=
ENST00000562025.1:n.412G=
ENST00000562318.5:c.*600G= ENSP00000454395.1:n.*600G=
ENST00000565221.5:c.*496G= ENSP00000457932.1:n.*496G=
ENST00000566540.5:c.*500G= ENSP00000454284.1:n.*500G=
ENST00000566604.5:c.*418G= ENSP00000456774.1:n.*418G=
ENST00000567697.1:n.4046G=
ENST00000569958.5:c.*137G= ENSP00000456302.1:n.*137G=
ENST00000570076.5:c.*336G= ENSP00000456961.1:n.*336G=
NM_000303.2:c.*137G= NP_000294.1:n.*137G=
XM_005255374.3:c.*137G= XP_005255431.1:n.*137G=
XM_011522538.1:c.640-7072G= XP_011520840.1:n.640-7072G=
XM_005255374.4:c.*137G= XP_005255431.1:n.*137G=
NM_000303.3:c.*137G= MANE Select NP_000294.1:n.*137G=