Canonical Allele Identifier: CA394696333

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8900252T>G (hg19) ; chr16:g.8806395T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806395T>G , CM000678.2:g.8806395T>G	GRCh38
NC_000016.9:g.8900252T>G , CM000678.1:g.8900252T>G	GRCh37
NC_000016.8:g.8807753T>G	NCBI36
NG_009209.1:g.13583T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.335T>G	ENSP00000507849.1:p.Leu112Arg
ENST00000682393.1:c.178+4485T>G	ENSP00000506774.1:n.178+4485T>G
ENST00000683094.1:c.*57T>G	ENSP00000508230.1:n.*57T>G
ENST00000683274.1:c.335T>G	ENSP00000507262.1:p.Leu112Arg
ENST00000683435.1:c.*331T>G	ENSP00000508092.1:n.*331T>G
ENST00000268261.9:c.335T>G MANE Select	ENSP00000268261.4:p.Leu112Arg
ENST00000268261.8:c.335T>G	ENSP00000268261.4:p.Leu112Arg
ENST00000562318.5:c.*57T>G	ENSP00000454395.1:n.*57T>G
ENST00000562448.1:n.299T>G
ENST00000564030.5:n.397T>G
ENST00000564069.1:c.306T>G
ENST00000565221.5:c.178+4485T>G	ENSP00000457932.1:n.178+4485T>G
ENST00000565896.5:c.*145+4006T>G	ENSP00000456024.1:n.*145+4006T>G
ENST00000566540.5:c.*57T>G	ENSP00000454284.1:n.*57T>G
ENST00000566604.5:c.335T>G	ENSP00000456774.1:p.Leu112Arg
ENST00000566983.5:c.254T>G	ENSP00000457956.1:p.Leu85Arg
ENST00000568602.5:c.*188T>G	ENSP00000455066.1:n.*188T>G
ENST00000569958.5:c.178+4485T>G	ENSP00000456302.1:n.178+4485T>G
ENST00000570076.5:c.178+4485T>G	ENSP00000456961.1:n.178+4485T>G
ENST00000570134.5:c.*57T>G	ENSP00000456275.1:n.*57T>G
NM_000303.2:c.335T>G	NP_000294.1:p.Leu112Arg
XM_005255372.3:c.335T>G	XP_005255429.1:p.Leu112Arg
XM_005255373.3:c.86T>G	XP_005255430.1:p.Leu29Arg
XM_005255374.3:c.86T>G	XP_005255431.1:p.Leu29Arg
XM_011522538.1:c.335T>G	XP_011520840.1:p.Leu112Arg
XM_011522539.1:c.-29+4485T>G	XP_011520841.1:n.-29+4485T>G
XM_005255374.4:c.86T>G	XP_005255431.1:p.Leu29Arg
NM_000303.3:c.335T>G MANE Select	NP_000294.1:p.Leu112Arg