Canonical Allele Identifier: CA7894145

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8813064C>T , CM000678.2:g.8813064C>T	GRCh38
NC_000016.9:g.8906921C>T , CM000678.1:g.8906921C>T	GRCh37
NC_000016.8:g.8814422C>T	NCBI36
NG_009209.1:g.20252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3765C>T
ENST00000682008.1:c.597C>T	ENSP00000507849.1:p.Asp199=
ENST00000682393.1:c.*215C>T	ENSP00000506774.1:n.*215C>T
ENST00000683094.1:c.*219C>T	ENSP00000508230.1:n.*219C>T
ENST00000683274.1:c.*137C>T	ENSP00000507262.1:n.*137C>T
ENST00000683435.1:c.*493C>T	ENSP00000508092.1:n.*493C>T
ENST00000268261.9:c.597C>T MANE Select	ENSP00000268261.4:p.Asp199=
ENST00000268261.8:c.597C>T	ENSP00000268261.4:p.Asp199=
ENST00000562318.5:c.*319C>T	ENSP00000454395.1:n.*319C>T
ENST00000564069.1:c.564C>T
ENST00000565221.5:c.*215C>T	ENSP00000457932.1:n.*215C>T
ENST00000566540.5:c.*219C>T	ENSP00000454284.1:n.*219C>T
ENST00000566604.5:c.*137C>T	ENSP00000456774.1:n.*137C>T
ENST00000566983.5:c.516C>T	ENSP00000457956.1:p.Asp172=
ENST00000567697.1:n.3765C>T
ENST00000569958.5:c.324C>T	ENSP00000456302.1:p.Asp108=
ENST00000570076.5:c.*55C>T	ENSP00000456961.1:n.*55C>T
ENST00000570134.5:c.*219C>T	ENSP00000456275.1:n.*219C>T
NM_000303.2:c.597C>T	NP_000294.1:p.Asp199=
XM_005255372.3:c.597C>T	XP_005255429.1:p.Asp199=
XM_005255373.3:c.348C>T	XP_005255430.1:p.Asp116=
XM_005255374.3:c.348C>T	XP_005255431.1:p.Asp116=
XM_011522538.1:c.597C>T	XP_011520840.1:p.Asp199=
XM_011522539.1:c.222C>T	XP_011520841.1:p.Asp74=
XM_005255374.4:c.348C>T	XP_005255431.1:p.Asp116=
NM_000303.3:c.597C>T MANE Select	NP_000294.1:p.Asp199=