Canonical Allele Identifier: CA394696717

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811173G>T , CM000678.2:g.8811173G>T	GRCh38
NC_000016.9:g.8905030G>T , CM000678.1:g.8905030G>T	GRCh37
NC_000016.8:g.8812531G>T	NCBI36
NG_009209.1:g.18361G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.442G>T MANE Select	NP_000294.1:p.Asp148Tyr
ENST00000268261.9:c.442G>T MANE Select	ENSP00000268261.4:p.Asp148Tyr
NM_000303.2:c.442G>T	NP_000294.1:p.Asp148Tyr
ENST00000268261.8:c.442G>T	ENSP00000268261.4:p.Asp148Tyr
ENST00000562318.5:c.*164G>T	ENSP00000454395.1:n.*164G>T
ENST00000564069.1:c.413G>T
ENST00000565221.5:c.*60G>T	ENSP00000457932.1:n.*60G>T
ENST00000565896.5:c.*240G>T	ENSP00000456024.1:n.*240G>T
ENST00000566540.5:c.*70-465G>T	ENSP00000454284.1:n.*70-465G>T
ENST00000566604.5:c.348-465G>T	ENSP00000456774.1:n.348-465G>T
ENST00000566983.5:c.361G>T	ENSP00000457956.1:p.Asp121Tyr
ENST00000567697.1:n.3610G>T
ENST00000567697.2:n.3610G>T
ENST00000569958.5:c.179-469G>T	ENSP00000456302.1:n.179-469G>T
ENST00000570076.5:c.179-465G>T	ENSP00000456961.1:n.179-465G>T
ENST00000570134.5:c.*70-465G>T	ENSP00000456275.1:n.*70-465G>T
ENST00000682008.1:c.442G>T	ENSP00000507849.1:p.Asp148Tyr
ENST00000682393.1:c.*60G>T	ENSP00000506774.1:n.*60G>T
ENST00000683094.1:c.*70-465G>T	ENSP00000508230.1:n.*70-465G>T
ENST00000683274.1:c.348-465G>T	ENSP00000507262.1:n.348-465G>T
ENST00000683435.1:c.*344-465G>T	ENSP00000508092.1:n.*344-465G>T
XM_005255372.3:c.442G>T	XP_005255429.1:p.Asp148Tyr
XM_005255373.3:c.193G>T	XP_005255430.1:p.Asp65Tyr
XM_005255374.3:c.193G>T	XP_005255431.1:p.Asp65Tyr
XM_005255374.4:c.193G>T	XP_005255431.1:p.Asp65Tyr
XM_011522538.1:c.442G>T	XP_011520840.1:p.Asp148Tyr
XM_011522539.1:c.67G>T	XP_011520841.1:p.Asp23Tyr