Canonical Allele Identifier: CA394695998
Gene: PMM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8804833T>A , CM000678.2:g.8804833T>A GRCh38
NC_000016.9:g.8898690T>A , CM000678.1:g.8898690T>A GRCh37
NC_000016.8:g.8806191T>A NCBI36
NG_009209.1:g.12021T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.245T>A ENSP00000507849.1:p.Leu82Ter
ENST00000682393.1:c.178+2923T>A ENSP00000506774.1:n.178+2923T>A
ENST00000683094.1:c.179-1483T>A ENSP00000508230.1:n.179-1483T>A
ENST00000683274.1:c.245T>A ENSP00000507262.1:p.Leu82Ter
ENST00000683435.1:c.*241T>A ENSP00000508092.1:n.*241T>A
ENST00000268261.9:c.245T>A MANE Select ENSP00000268261.4:p.Leu82Ter
ENST00000268261.8:c.245T>A ENSP00000268261.4:p.Leu82Ter
ENST00000562318.5:c.179-1483T>A ENSP00000454395.1:n.179-1483T>A
ENST00000562448.1:n.220-1483T>A
ENST00000564030.5:n.307T>A
ENST00000564069.1:c.216T>A
ENST00000565221.5:c.178+2923T>A ENSP00000457932.1:n.178+2923T>A
ENST00000565896.5:c.*145+2444T>A ENSP00000456024.1:n.*145+2444T>A
ENST00000566540.5:c.179-1483T>A ENSP00000454284.1:n.179-1483T>A
ENST00000566604.5:c.245T>A ENSP00000456774.1:p.Leu82Ter
ENST00000566983.5:c.164T>A ENSP00000457956.1:p.Leu55Ter
ENST00000568602.5:c.*98T>A ENSP00000455066.1:n.*98T>A
ENST00000569958.5:c.178+2923T>A ENSP00000456302.1:n.178+2923T>A
ENST00000570076.5:c.178+2923T>A ENSP00000456961.1:n.178+2923T>A
ENST00000570134.5:c.179-1483T>A ENSP00000456275.1:n.179-1483T>A
NM_000303.2:c.245T>A NP_000294.1:p.Leu82Ter
XM_005255372.3:c.245T>A XP_005255429.1:p.Leu82Ter
XM_005255373.3:c.7-1483T>A XP_005255430.1:n.7-1483T>A
XM_005255374.3:c.7-1483T>A XP_005255431.1:n.7-1483T>A
XM_011522538.1:c.245T>A XP_011520840.1:p.Leu82Ter
XM_011522539.1:c.-29+2923T>A XP_011520841.1:n.-29+2923T>A
XM_005255374.4:c.7-1483T>A XP_005255431.1:n.7-1483T>A
NM_000303.3:c.245T>A MANE Select NP_000294.1:p.Leu82Ter