Canonical Allele Identifier: CA394689573

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8941630C>T (hg19) ; chr16:g.8847773C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847773C>T , CM000678.2:g.8847773C>T	GRCh38
NC_000016.9:g.8941630C>T , CM000678.1:g.8941630C>T	GRCh37
NC_000016.8:g.8849131C>T	NCBI36
NG_009209.1:g.54961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3857C>T
ENST00000682393.1:c.*258-1596C>T	ENSP00000506774.1:n.*258-1596C>T
ENST00000683094.1:c.*262-1596C>T	ENSP00000508230.1:n.*262-1596C>T
ENST00000683274.1:c.*180-1596C>T	ENSP00000507262.1:n.*180-1596C>T
ENST00000683435.1:c.*585C>T	ENSP00000508092.1:n.*585C>T
ENST00000268261.9:c.689C>T MANE Select	ENSP00000268261.4:p.Ser230Phe
ENST00000268261.8:c.689C>T	ENSP00000268261.4:p.Ser230Phe
ENST00000562025.1:n.223C>T
ENST00000562318.5:c.*411C>T	ENSP00000454395.1:n.*411C>T
ENST00000565221.5:c.*307C>T	ENSP00000457932.1:n.*307C>T
ENST00000566540.5:c.*311C>T	ENSP00000454284.1:n.*311C>T
ENST00000566604.5:c.*229C>T	ENSP00000456774.1:n.*229C>T
ENST00000566983.5:c.608C>T	ENSP00000457956.1:p.Ser203Phe
ENST00000567697.1:n.3857C>T
ENST00000569958.5:c.416C>T	ENSP00000456302.1:p.Ser139Phe
ENST00000570076.5:c.*147C>T	ENSP00000456961.1:n.*147C>T
NM_000303.2:c.689C>T	NP_000294.1:p.Ser230Phe
XM_005255374.3:c.440C>T	XP_005255431.1:p.Ser147Phe
XM_011522538.1:c.640-7261C>T	XP_011520840.1:n.640-7261C>T
XM_005255374.4:c.440C>T	XP_005255431.1:p.Ser147Phe
NM_000303.3:c.689C>T MANE Select	NP_000294.1:p.Ser230Phe