Canonical Allele Identifier: CA7894216

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847801G>T , CM000678.2:g.8847801G>T	GRCh38
NC_000016.9:g.8941658G>T , CM000678.1:g.8941658G>T	GRCh37
NC_000016.8:g.8849159G>T	NCBI36
NG_009209.1:g.54989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3885G>T
ENST00000682393.1:c.*258-1568G>T	ENSP00000506774.1:n.*258-1568G>T
ENST00000683094.1:c.*262-1568G>T	ENSP00000508230.1:n.*262-1568G>T
ENST00000683274.1:c.*180-1568G>T	ENSP00000507262.1:n.*180-1568G>T
ENST00000683435.1:c.*613G>T	ENSP00000508092.1:n.*613G>T
ENST00000268261.9:c.717G>T MANE Select	ENSP00000268261.4:p.Arg239Ser
ENST00000268261.8:c.717G>T	ENSP00000268261.4:p.Arg239Ser
ENST00000562025.1:n.251G>T
ENST00000562318.5:c.*439G>T	ENSP00000454395.1:n.*439G>T
ENST00000565221.5:c.*335G>T	ENSP00000457932.1:n.*335G>T
ENST00000566540.5:c.*339G>T	ENSP00000454284.1:n.*339G>T
ENST00000566604.5:c.*257G>T	ENSP00000456774.1:n.*257G>T
ENST00000566983.5:c.636G>T	ENSP00000457956.1:p.Arg212Ser
ENST00000567697.1:n.3885G>T
ENST00000569958.5:c.444G>T	ENSP00000456302.1:p.Arg148Ser
ENST00000570076.5:c.*175G>T	ENSP00000456961.1:n.*175G>T
NM_000303.2:c.717G>T	NP_000294.1:p.Arg239Ser
XM_005255374.3:c.468G>T	XP_005255431.1:p.Arg156Ser
XM_011522538.1:c.640-7233G>T	XP_011520840.1:n.640-7233G>T
XM_005255374.4:c.468G>T	XP_005255431.1:p.Arg156Ser
NM_000303.3:c.717G>T MANE Select	NP_000294.1:p.Arg239Ser