Canonical Allele Identifier: CA394697656

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8812998G>T , CM000678.2:g.8812998G>T	GRCh38
NC_000016.9:g.8906855G>T , CM000678.1:g.8906855G>T	GRCh37
NC_000016.8:g.8814356G>T	NCBI36
NG_009209.1:g.20186G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.531G>T MANE Select	NP_000294.1:p.Gln177His
ENST00000268261.9:c.531G>T MANE Select	ENSP00000268261.4:p.Gln177His
NM_000303.2:c.531G>T	NP_000294.1:p.Gln177His
ENST00000268261.8:c.531G>T	ENSP00000268261.4:p.Gln177His
ENST00000562318.5:c.*253G>T	ENSP00000454395.1:n.*253G>T
ENST00000564069.1:c.498G>T
ENST00000565221.5:c.*149G>T	ENSP00000457932.1:n.*149G>T
ENST00000566540.5:c.*153G>T	ENSP00000454284.1:n.*153G>T
ENST00000566604.5:c.*71G>T	ENSP00000456774.1:n.*71G>T
ENST00000566983.5:c.450G>T	ENSP00000457956.1:p.Gln150His
ENST00000567697.1:n.3699G>T
ENST00000567697.2:n.3699G>T
ENST00000569958.5:c.258G>T	ENSP00000456302.1:p.Gln86His
ENST00000570076.5:c.262G>T	ENSP00000456961.1:p.Asp88Tyr
ENST00000570134.5:c.*153G>T	ENSP00000456275.1:n.*153G>T
ENST00000682008.1:c.531G>T	ENSP00000507849.1:p.Gln177His
ENST00000682393.1:c.*149G>T	ENSP00000506774.1:n.*149G>T
ENST00000683094.1:c.*153G>T	ENSP00000508230.1:n.*153G>T
ENST00000683274.1:c.*71G>T	ENSP00000507262.1:n.*71G>T
ENST00000683435.1:c.*427G>T	ENSP00000508092.1:n.*427G>T
XM_005255372.3:c.531G>T	XP_005255429.1:p.Gln177His
XM_005255373.3:c.282G>T	XP_005255430.1:p.Gln94His
XM_005255374.3:c.282G>T	XP_005255431.1:p.Gln94His
XM_005255374.4:c.282G>T	XP_005255431.1:p.Gln94His
XM_011522538.1:c.531G>T	XP_011520840.1:p.Gln177His
XM_011522539.1:c.156G>T	XP_011520841.1:p.Gln52His