Canonical Allele Identifier: CA493511955

Gene: PMM2

Linked Data

• dbSNP Id: rs770458492
• MyVariant Identifiers: chr16:g.8900227C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806370C>T , CM000678.2:g.8806370C>T	GRCh38
NC_000016.9:g.8900227C>T , CM000678.1:g.8900227C>T	GRCh37
NC_000016.8:g.8807728C>T	NCBI36
NG_009209.1:g.13558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.310C>T	ENSP00000507849.1:p.Leu104=
ENST00000682393.1:c.178+4460C>T	ENSP00000506774.1:n.178+4460C>T
ENST00000683094.1:c.*32C>T	ENSP00000508230.1:n.*32C>T
ENST00000683274.1:c.310C>T	ENSP00000507262.1:p.Leu104=
ENST00000683435.1:c.*306C>T	ENSP00000508092.1:n.*306C>T
ENST00000268261.9:c.310C>T MANE Select	ENSP00000268261.4:p.Leu104=
ENST00000268261.8:c.310C>T	ENSP00000268261.4:p.Leu104=
ENST00000562318.5:c.*32C>T	ENSP00000454395.1:n.*32C>T
ENST00000562448.1:n.274C>T
ENST00000564030.5:n.372C>T
ENST00000564069.1:c.281C>T
ENST00000565221.5:c.178+4460C>T	ENSP00000457932.1:n.178+4460C>T
ENST00000565896.5:c.*145+3981C>T	ENSP00000456024.1:n.*145+3981C>T
ENST00000566540.5:c.*32C>T	ENSP00000454284.1:n.*32C>T
ENST00000566604.5:c.310C>T	ENSP00000456774.1:p.Leu104=
ENST00000566983.5:c.229C>T	ENSP00000457956.1:p.Leu77=
ENST00000568602.5:c.*163C>T	ENSP00000455066.1:n.*163C>T
ENST00000569958.5:c.178+4460C>T	ENSP00000456302.1:n.178+4460C>T
ENST00000570076.5:c.178+4460C>T	ENSP00000456961.1:n.178+4460C>T
ENST00000570134.5:c.*32C>T	ENSP00000456275.1:n.*32C>T
NM_000303.2:c.310C>T	NP_000294.1:p.Leu104=
XM_005255372.3:c.310C>T	XP_005255429.1:p.Leu104=
XM_005255373.3:c.61C>T	XP_005255430.1:p.Leu21=
XM_005255374.3:c.61C>T	XP_005255431.1:p.Leu21=
XM_011522538.1:c.310C>T	XP_011520840.1:p.Leu104=
XM_011522539.1:c.-29+4460C>T	XP_011520841.1:n.-29+4460C>T
XM_005255374.4:c.61C>T	XP_005255431.1:p.Leu21=
NM_000303.3:c.310C>T MANE Select	NP_000294.1:p.Leu104=