Canonical Allele Identifier: CA394689686
Gene: PMM2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.8941662T>A (hg19) chr16:g.8847805T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8847805T>A , CM000678.2:g.8847805T>A GRCh38
NC_000016.9:g.8941662T>A , CM000678.1:g.8941662T>A GRCh37
NC_000016.8:g.8849163T>A NCBI36
NG_009209.1:g.54993T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000567697.2:n.3889T>A
ENST00000682393.1:c.*258-1564T>A ENSP00000506774.1:n.*258-1564T>A
ENST00000683094.1:c.*262-1564T>A ENSP00000508230.1:n.*262-1564T>A
ENST00000683274.1:c.*180-1564T>A ENSP00000507262.1:n.*180-1564T>A
ENST00000683435.1:c.*617T>A ENSP00000508092.1:n.*617T>A
ENST00000268261.9:c.721T>A MANE Select ENSP00000268261.4:p.Cys241Ser
ENST00000268261.8:c.721T>A ENSP00000268261.4:p.Cys241Ser
ENST00000562025.1:n.255T>A
ENST00000562318.5:c.*443T>A ENSP00000454395.1:n.*443T>A
ENST00000565221.5:c.*339T>A ENSP00000457932.1:n.*339T>A
ENST00000566540.5:c.*343T>A ENSP00000454284.1:n.*343T>A
ENST00000566604.5:c.*261T>A ENSP00000456774.1:n.*261T>A
ENST00000566983.5:c.640T>A ENSP00000457956.1:p.Cys214Ser
ENST00000567697.1:n.3889T>A
ENST00000569958.5:c.448T>A ENSP00000456302.1:p.Cys150Ser
ENST00000570076.5:c.*179T>A ENSP00000456961.1:n.*179T>A
NM_000303.2:c.721T>A NP_000294.1:p.Cys241Ser
XM_005255374.3:c.472T>A XP_005255431.1:p.Cys158Ser
XM_011522538.1:c.640-7229T>A XP_011520840.1:n.640-7229T>A
XM_005255374.4:c.472T>A XP_005255431.1:p.Cys158Ser
NM_000303.3:c.721T>A MANE Select NP_000294.1:p.Cys241Ser
Search 100 bp 5'
Search 100 bp 3'