Canonical Allele Identifier: CA16608298
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 379715
ClinVar RCV Id: RCV000426961 RCV002524853
dbSNP Id: rs1057520708
gnomAD v4: 16-8801889-C-T
MyVariant Identifiers: chr16:g.8895746C>T (hg19) chr16:g.8801889C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8801889C>T , CM000678.2:g.8801889C>T GRCh38
NC_000016.9:g.8895746C>T , CM000678.1:g.8895746C>T GRCh37
NC_000016.8:g.8803247C>T NCBI36
NG_009209.1:g.9077C>T
NG_033146.1:g.760G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682008.1:c.157C>T ENSP00000507849.1:p.Gln53Ter
ENST00000682393.1:c.157C>T ENSP00000506774.1:p.Gln53Ter
ENST00000683094.1:c.157C>T ENSP00000508230.1:p.Gln53Ter
ENST00000683274.1:c.157C>T ENSP00000507262.1:p.Gln53Ter
ENST00000683435.1:c.157C>T ENSP00000508092.1:p.Gln53Ter
ENST00000268261.9:c.157C>T MANE Select ENSP00000268261.4:p.Gln53Ter
ENST00000268261.8:c.157C>T ENSP00000268261.4:p.Gln53Ter
ENST00000562318.5:c.157C>T ENSP00000454395.1:p.Gln53Ter
ENST00000562448.1:n.198C>T
ENST00000564030.5:n.219C>T
ENST00000564069.1:c.128C>T
ENST00000565221.5:c.157C>T ENSP00000457932.1:p.Gln53Ter
ENST00000565896.5:c.157C>T ENSP00000456024.1:p.Gln53Ter
ENST00000566196.5:n.201C>T
ENST00000566540.5:c.157C>T ENSP00000454284.1:p.Gln53Ter
ENST00000566604.5:c.157C>T ENSP00000456774.1:p.Gln53Ter
ENST00000566983.5:c.76C>T ENSP00000457956.1:p.Gln26Ter
ENST00000568602.5:c.157C>T ENSP00000455066.1:p.Gln53Ter
ENST00000569958.5:c.157C>T ENSP00000456302.1:p.Gln53Ter
ENST00000570076.5:c.157C>T ENSP00000456961.1:p.Gln53Ter
ENST00000570134.5:c.157C>T ENSP00000456275.1:p.Gln53Ter
NM_000303.2:c.157C>T NP_000294.1:p.Gln53Ter
XM_005255372.3:c.157C>T XP_005255429.1:p.Gln53Ter
XM_005255373.3:c.-16C>T XP_005255430.1:n.-16C>T
XM_005255374.3:c.-16C>T XP_005255431.1:n.-16C>T
XM_011522538.1:c.157C>T XP_011520840.1:p.Gln53Ter
XM_011522539.1:c.-50C>T XP_011520841.1:n.-50C>T
XM_005255374.4:c.-16C>T XP_005255431.1:n.-16C>T
NM_000303.3:c.157C>T MANE Select NP_000294.1:p.Gln53Ter
Search 100 bp 5'
Search 100 bp 3'