Canonical Allele Identifier: CA394696073

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8900179C>G (hg19) ; chr16:g.8806322C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806322C>G , CM000678.2:g.8806322C>G	GRCh38
NC_000016.9:g.8900179C>G , CM000678.1:g.8900179C>G	GRCh37
NC_000016.8:g.8807680C>G	NCBI36
NG_009209.1:g.13510C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.262C>G	ENSP00000507849.1:p.Gln88Glu
ENST00000682393.1:c.178+4412C>G	ENSP00000506774.1:n.178+4412C>G
ENST00000683094.1:c.185C>G	ENSP00000508230.1:p.Ser62Ter
ENST00000683274.1:c.262C>G	ENSP00000507262.1:p.Gln88Glu
ENST00000683435.1:c.*258C>G	ENSP00000508092.1:n.*258C>G
ENST00000268261.9:c.262C>G MANE Select	ENSP00000268261.4:p.Gln88Glu
ENST00000268261.8:c.262C>G	ENSP00000268261.4:p.Gln88Glu
ENST00000562318.5:c.185C>G	ENSP00000454395.1:p.Ser62Ter
ENST00000562448.1:n.226C>G
ENST00000564030.5:n.324C>G
ENST00000564069.1:c.233C>G
ENST00000565221.5:c.178+4412C>G	ENSP00000457932.1:n.178+4412C>G
ENST00000565896.5:c.*145+3933C>G	ENSP00000456024.1:n.*145+3933C>G
ENST00000566540.5:c.185C>G	ENSP00000454284.1:p.Ser62Ter
ENST00000566604.5:c.262C>G	ENSP00000456774.1:p.Gln88Glu
ENST00000566983.5:c.181C>G	ENSP00000457956.1:p.Gln61Glu
ENST00000568602.5:c.*115C>G	ENSP00000455066.1:n.*115C>G
ENST00000569958.5:c.178+4412C>G	ENSP00000456302.1:n.178+4412C>G
ENST00000570076.5:c.178+4412C>G	ENSP00000456961.1:n.178+4412C>G
ENST00000570134.5:c.185C>G	ENSP00000456275.1:p.Ser62Ter
NM_000303.2:c.262C>G	NP_000294.1:p.Gln88Glu
XM_005255372.3:c.262C>G	XP_005255429.1:p.Gln88Glu
XM_005255373.3:c.13C>G	XP_005255430.1:p.Gln5Glu
XM_005255374.3:c.13C>G	XP_005255431.1:p.Gln5Glu
XM_011522538.1:c.262C>G	XP_011520840.1:p.Gln88Glu
XM_011522539.1:c.-29+4412C>G	XP_011520841.1:n.-29+4412C>G
XM_005255374.4:c.13C>G	XP_005255431.1:p.Gln5Glu
NM_000303.3:c.262C>G MANE Select	NP_000294.1:p.Gln88Glu