Canonical Allele Identifier: CA7894139
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 225443
ClinVar RCV Id: RCV000490462
dbSNP Id: rs199562225
gnomAD v2: 16-8906904-C-T
gnomAD v4: 16-8813047-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8813047C>T , CM000678.2:g.8813047C>T GRCh38
NC_000016.9:g.8906904C>T , CM000678.1:g.8906904C>T GRCh37
NC_000016.8:g.8814405C>T NCBI36
NG_009209.1:g.20235C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000567697.2:n.3748C>T
ENST00000682008.1:c.580C>T ENSP00000507849.1:p.Arg194Ter
ENST00000682393.1:c.*198C>T ENSP00000506774.1:n.*198C>T
ENST00000683094.1:c.*202C>T ENSP00000508230.1:n.*202C>T
ENST00000683274.1:c.*120C>T ENSP00000507262.1:n.*120C>T
ENST00000683435.1:c.*476C>T ENSP00000508092.1:n.*476C>T
ENST00000268261.9:c.580C>T MANE Select ENSP00000268261.4:p.Arg194Ter
ENST00000268261.8:c.580C>T ENSP00000268261.4:p.Arg194Ter
ENST00000562318.5:c.*302C>T ENSP00000454395.1:n.*302C>T
ENST00000564069.1:c.547C>T
ENST00000565221.5:c.*198C>T ENSP00000457932.1:n.*198C>T
ENST00000566540.5:c.*202C>T ENSP00000454284.1:n.*202C>T
ENST00000566604.5:c.*120C>T ENSP00000456774.1:n.*120C>T
ENST00000566983.5:c.499C>T ENSP00000457956.1:p.Arg167Ter
ENST00000567697.1:n.3748C>T
ENST00000569958.5:c.307C>T ENSP00000456302.1:p.Arg103Ter
ENST00000570076.5:c.*38C>T ENSP00000456961.1:n.*38C>T
ENST00000570134.5:c.*202C>T ENSP00000456275.1:n.*202C>T
NM_000303.2:c.580C>T NP_000294.1:p.Arg194Ter
XM_005255372.3:c.580C>T XP_005255429.1:p.Arg194Ter
XM_005255373.3:c.331C>T XP_005255430.1:p.Arg111Ter
XM_005255374.3:c.331C>T XP_005255431.1:p.Arg111Ter
XM_011522538.1:c.580C>T XP_011520840.1:p.Arg194Ter
XM_011522539.1:c.205C>T XP_011520841.1:p.Arg69Ter
XM_005255374.4:c.331C>T XP_005255431.1:p.Arg111Ter
NM_000303.3:c.580C>T MANE Select NP_000294.1:p.Arg194Ter