Canonical Allele Identifier: CA16041798
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371231
ClinVar RCV Id: RCV000409396
dbSNP Id: rs1057517110
MyVariant Identifiers: chr16:g.8904943T>C (hg19) chr16:g.8811086T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8811086T>C , CM000678.2:g.8811086T>C GRCh38
NC_000016.9:g.8904943T>C , CM000678.1:g.8904943T>C GRCh37
NC_000016.8:g.8812444T>C NCBI36
NG_009209.1:g.18274T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000567697.2:n.3523T>C
ENST00000682008.1:c.355T>C ENSP00000507849.1:p.Phe119Leu
ENST00000682393.1:c.186T>C ENSP00000506774.1:p.Leu62=
ENST00000683094.1:c.*70-552T>C ENSP00000508230.1:n.*70-552T>C
ENST00000683274.1:c.348-552T>C ENSP00000507262.1:n.348-552T>C
ENST00000683435.1:c.*344-552T>C ENSP00000508092.1:n.*344-552T>C
ENST00000268261.9:c.355T>C MANE Select ENSP00000268261.4:p.Phe119Leu
ENST00000268261.8:c.355T>C ENSP00000268261.4:p.Phe119Leu
ENST00000562318.5:c.*77T>C ENSP00000454395.1:n.*77T>C
ENST00000564069.1:c.326T>C
ENST00000565221.5:c.186T>C ENSP00000457932.1:p.Leu62=
ENST00000565896.5:c.*153T>C ENSP00000456024.1:n.*153T>C
ENST00000566540.5:c.*70-552T>C ENSP00000454284.1:n.*70-552T>C
ENST00000566604.5:c.348-552T>C ENSP00000456774.1:n.348-552T>C
ENST00000566983.5:c.274T>C ENSP00000457956.1:p.Phe92Leu
ENST00000567697.1:n.3523T>C
ENST00000568602.5:c.*208T>C ENSP00000455066.1:n.*208T>C
ENST00000569958.5:c.179-556T>C ENSP00000456302.1:n.179-556T>C
ENST00000570076.5:c.179-552T>C ENSP00000456961.1:n.179-552T>C
ENST00000570134.5:c.*70-552T>C ENSP00000456275.1:n.*70-552T>C
NM_000303.2:c.355T>C NP_000294.1:p.Phe119Leu
XM_005255372.3:c.355T>C XP_005255429.1:p.Phe119Leu
XM_005255373.3:c.106T>C XP_005255430.1:p.Phe36Leu
XM_005255374.3:c.106T>C XP_005255431.1:p.Phe36Leu
XM_011522538.1:c.355T>C XP_011520840.1:p.Phe119Leu
XM_011522539.1:c.-21T>C XP_011520841.1:n.-21T>C
XM_005255374.4:c.106T>C XP_005255431.1:p.Phe36Leu
NM_000303.3:c.355T>C MANE Select NP_000294.1:p.Phe119Leu
Search 100 bp 5'
Search 100 bp 3'