Canonical Allele Identifier: CA2206136006

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811674C= , CM000678.2:g.8811674C=	GRCh38
NC_000016.9:g.8905531C= , CM000678.1:g.8905531C=	GRCh37
NC_000016.8:g.8813032C=	NCBI36
NG_009209.1:g.18862C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.484C= MANE Select	NP_000294.1:p.Arg162=
ENST00000268261.9:c.484C= MANE Select	ENSP00000268261.4:p.Arg162=
NM_000303.2:c.484C=	NP_000294.1:p.Arg162=
ENST00000268261.8:c.484C=	ENSP00000268261.4:p.Arg162=
ENST00000562318.5:c.*206C=	ENSP00000454395.1:n.*206C=
ENST00000564069.1:c.451C=
ENST00000565221.5:c.*102C=	ENSP00000457932.1:n.*102C=
ENST00000566540.5:c.*106C=	ENSP00000454284.1:n.*106C=
ENST00000566604.5:c.*24C=	ENSP00000456774.1:n.*24C=
ENST00000566983.5:c.403C=	ENSP00000457956.1:p.Arg135=
ENST00000567697.1:n.3652C=
ENST00000567697.2:n.3652C=
ENST00000569958.5:c.211C=	ENSP00000456302.1:p.Arg71=
ENST00000570076.5:c.215C=	ENSP00000456961.1:p.Thr72=
ENST00000570134.5:c.*106C=	ENSP00000456275.1:n.*106C=
ENST00000682008.1:c.484C=	ENSP00000507849.1:p.Arg162=
ENST00000682393.1:c.*102C=	ENSP00000506774.1:n.*102C=
ENST00000683094.1:c.*106C=	ENSP00000508230.1:n.*106C=
ENST00000683274.1:c.*24C=	ENSP00000507262.1:n.*24C=
ENST00000683435.1:c.*380C=	ENSP00000508092.1:n.*380C=
XM_005255372.3:c.484C=	XP_005255429.1:p.Arg162=
XM_005255373.3:c.235C=	XP_005255430.1:p.Arg79=
XM_005255374.3:c.235C=	XP_005255431.1:p.Arg79=
XM_005255374.4:c.235C=	XP_005255431.1:p.Arg79=
XM_011522538.1:c.484C=	XP_011520840.1:p.Arg162=
XM_011522539.1:c.109C=	XP_011520841.1:p.Arg37=