Canonical Allele Identifier: CA16041795
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 370282
ClinVar RCV Id: RCV000410134
dbSNP Id: rs1057516372
gnomAD v2: 16-8900171-A-G
gnomAD v4: 16-8806314-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8806314A>G , CM000678.2:g.8806314A>G GRCh38
NC_000016.9:g.8900171A>G , CM000678.1:g.8900171A>G GRCh37
NC_000016.8:g.8807672A>G NCBI36
NG_009209.1:g.13502A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682008.1:c.256-2A>G ENSP00000507849.1:n.256-2A>G
ENST00000682393.1:c.178+4404A>G ENSP00000506774.1:n.178+4404A>G
ENST00000683094.1:c.179-2A>G ENSP00000508230.1:n.179-2A>G
ENST00000683274.1:c.256-2A>G ENSP00000507262.1:n.256-2A>G
ENST00000683435.1:c.*252-2A>G ENSP00000508092.1:n.*252-2A>G
ENST00000268261.9:c.256-2A>G MANE Select ENSP00000268261.4:n.256-2A>G
ENST00000268261.8:c.256-2A>G ENSP00000268261.4:n.256-2A>G
ENST00000562318.5:c.179-2A>G ENSP00000454395.1:n.179-2A>G
ENST00000562448.1:n.220-2A>G
ENST00000564030.5:n.318-2A>G
ENST00000564069.1:c.227-2A>G
ENST00000565221.5:c.178+4404A>G ENSP00000457932.1:n.178+4404A>G
ENST00000565896.5:c.*145+3925A>G ENSP00000456024.1:n.*145+3925A>G
ENST00000566540.5:c.179-2A>G ENSP00000454284.1:n.179-2A>G
ENST00000566604.5:c.256-2A>G ENSP00000456774.1:n.256-2A>G
ENST00000566983.5:c.175-2A>G ENSP00000457956.1:n.175-2A>G
ENST00000568602.5:c.*109-2A>G ENSP00000455066.1:n.*109-2A>G
ENST00000569958.5:c.178+4404A>G ENSP00000456302.1:n.178+4404A>G
ENST00000570076.5:c.178+4404A>G ENSP00000456961.1:n.178+4404A>G
ENST00000570134.5:c.179-2A>G ENSP00000456275.1:n.179-2A>G
NM_000303.2:c.256-2A>G NP_000294.1:n.256-2A>G
XM_005255372.3:c.256-2A>G XP_005255429.1:n.256-2A>G
XM_005255373.3:c.7-2A>G XP_005255430.1:n.7-2A>G
XM_005255374.3:c.7-2A>G XP_005255431.1:n.7-2A>G
XM_011522538.1:c.256-2A>G XP_011520840.1:n.256-2A>G
XM_011522539.1:c.-29+4404A>G XP_011520841.1:n.-29+4404A>G
XM_005255374.4:c.7-2A>G XP_005255431.1:n.7-2A>G
NM_000303.3:c.256-2A>G MANE Select NP_000294.1:n.256-2A>G