Canonical Allele Identifier: CA394696672

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811161T>G , CM000678.2:g.8811161T>G	GRCh38
NC_000016.9:g.8905018T>G , CM000678.1:g.8905018T>G	GRCh37
NC_000016.8:g.8812519T>G	NCBI36
NG_009209.1:g.18349T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.430T>G MANE Select	NP_000294.1:p.Phe144Val
ENST00000268261.9:c.430T>G MANE Select	ENSP00000268261.4:p.Phe144Val
NM_000303.2:c.430T>G	NP_000294.1:p.Phe144Val
ENST00000268261.8:c.430T>G	ENSP00000268261.4:p.Phe144Val
ENST00000562318.5:c.*152T>G	ENSP00000454395.1:n.*152T>G
ENST00000564069.1:c.401T>G
ENST00000565221.5:c.*48T>G	ENSP00000457932.1:n.*48T>G
ENST00000565896.5:c.*228T>G	ENSP00000456024.1:n.*228T>G
ENST00000566540.5:c.*70-477T>G	ENSP00000454284.1:n.*70-477T>G
ENST00000566604.5:c.348-477T>G	ENSP00000456774.1:n.348-477T>G
ENST00000566983.5:c.349T>G	ENSP00000457956.1:p.Phe117Val
ENST00000567697.1:n.3598T>G
ENST00000567697.2:n.3598T>G
ENST00000569958.5:c.179-481T>G	ENSP00000456302.1:n.179-481T>G
ENST00000570076.5:c.179-477T>G	ENSP00000456961.1:n.179-477T>G
ENST00000570134.5:c.*70-477T>G	ENSP00000456275.1:n.*70-477T>G
ENST00000682008.1:c.430T>G	ENSP00000507849.1:p.Phe144Val
ENST00000682393.1:c.*48T>G	ENSP00000506774.1:n.*48T>G
ENST00000683094.1:c.*70-477T>G	ENSP00000508230.1:n.*70-477T>G
ENST00000683274.1:c.348-477T>G	ENSP00000507262.1:n.348-477T>G
ENST00000683435.1:c.*344-477T>G	ENSP00000508092.1:n.*344-477T>G
XM_005255372.3:c.430T>G	XP_005255429.1:p.Phe144Val
XM_005255373.3:c.181T>G	XP_005255430.1:p.Phe61Val
XM_005255374.3:c.181T>G	XP_005255431.1:p.Phe61Val
XM_005255374.4:c.181T>G	XP_005255431.1:p.Phe61Val
XM_011522538.1:c.430T>G	XP_011520840.1:p.Phe144Val
XM_011522539.1:c.55T>G	XP_011520841.1:p.Phe19Val