Canonical Allele Identifier: CA273927
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 188763
dbSNP Id: rs190521996
gnomAD v2: 16-8905517-T-C
gnomAD v3: 16-8811660-T-C
gnomAD v4: 16-8811660-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8811660T>C , CM000678.2:g.8811660T>C GRCh38
NC_000016.9:g.8905517T>C , CM000678.1:g.8905517T>C GRCh37
NC_000016.8:g.8813018T>C NCBI36
NG_009209.1:g.18848T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000567697.2:n.3638T>C
ENST00000682008.1:c.470T>C ENSP00000507849.1:p.Phe157Ser
ENST00000682393.1:c.*88T>C ENSP00000506774.1:n.*88T>C
ENST00000683094.1:c.*92T>C ENSP00000508230.1:n.*92T>C
ENST00000683274.1:c.*10T>C ENSP00000507262.1:n.*10T>C
ENST00000683435.1:c.*366T>C ENSP00000508092.1:n.*366T>C
ENST00000268261.9:c.470T>C MANE Select ENSP00000268261.4:p.Phe157Ser
ENST00000268261.8:c.470T>C ENSP00000268261.4:p.Phe157Ser
ENST00000562318.5:c.*192T>C ENSP00000454395.1:n.*192T>C
ENST00000564069.1:c.437T>C
ENST00000565221.5:c.*88T>C ENSP00000457932.1:n.*88T>C
ENST00000565896.5:c.*268T>C ENSP00000456024.1:n.*268T>C
ENST00000566540.5:c.*92T>C ENSP00000454284.1:n.*92T>C
ENST00000566604.5:c.*10T>C ENSP00000456774.1:n.*10T>C
ENST00000566983.5:c.389T>C ENSP00000457956.1:p.Phe130Ser
ENST00000567697.1:n.3638T>C
ENST00000569958.5:c.197T>C ENSP00000456302.1:p.Phe66Ser
ENST00000570076.5:c.201T>C ENSP00000456961.1:p.Val67=
ENST00000570134.5:c.*92T>C ENSP00000456275.1:n.*92T>C
NM_000303.2:c.470T>C NP_000294.1:p.Phe157Ser
XM_005255372.3:c.470T>C XP_005255429.1:p.Phe157Ser
XM_005255373.3:c.221T>C XP_005255430.1:p.Phe74Ser
XM_005255374.3:c.221T>C XP_005255431.1:p.Phe74Ser
XM_011522538.1:c.470T>C XP_011520840.1:p.Phe157Ser
XM_011522539.1:c.95T>C XP_011520841.1:p.Phe32Ser
XM_005255374.4:c.221T>C XP_005255431.1:p.Phe74Ser
NM_000303.3:c.470T>C MANE Select NP_000294.1:p.Phe157Ser