Canonical Allele Identifier: CA394689486
Gene: PMM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8847760A>T , CM000678.2:g.8847760A>T GRCh38
NC_000016.9:g.8941617A>T , CM000678.1:g.8941617A>T GRCh37
NC_000016.8:g.8849118A>T NCBI36
NG_009209.1:g.54948A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000567697.2:n.3844A>T
ENST00000682393.1:c.*258-1609A>T ENSP00000506774.1:n.*258-1609A>T
ENST00000683094.1:c.*262-1609A>T ENSP00000508230.1:n.*262-1609A>T
ENST00000683274.1:c.*180-1609A>T ENSP00000507262.1:n.*180-1609A>T
ENST00000683435.1:c.*572A>T ENSP00000508092.1:n.*572A>T
ENST00000268261.9:c.676A>T MANE Select ENSP00000268261.4:p.Thr226Ser
ENST00000268261.8:c.676A>T ENSP00000268261.4:p.Thr226Ser
ENST00000562025.1:n.210A>T
ENST00000562318.5:c.*398A>T ENSP00000454395.1:n.*398A>T
ENST00000565221.5:c.*294A>T ENSP00000457932.1:n.*294A>T
ENST00000566540.5:c.*298A>T ENSP00000454284.1:n.*298A>T
ENST00000566604.5:c.*216A>T ENSP00000456774.1:n.*216A>T
ENST00000566983.5:c.595A>T ENSP00000457956.1:p.Thr199Ser
ENST00000567697.1:n.3844A>T
ENST00000569958.5:c.403A>T ENSP00000456302.1:p.Thr135Ser
ENST00000570076.5:c.*134A>T ENSP00000456961.1:n.*134A>T
NM_000303.2:c.676A>T NP_000294.1:p.Thr226Ser
XM_005255374.3:c.427A>T XP_005255431.1:p.Thr143Ser
XM_011522538.1:c.640-7274A>T XP_011520840.1:n.640-7274A>T
XM_005255374.4:c.427A>T XP_005255431.1:p.Thr143Ser
NM_000303.3:c.676A>T MANE Select NP_000294.1:p.Thr226Ser