Canonical Allele Identifier: CA2206132323

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804788T= , CM000678.2:g.8804788T=	GRCh38
NC_000016.9:g.8898645T= , CM000678.1:g.8898645T=	GRCh37
NC_000016.8:g.8806146T=	NCBI36
NG_009209.1:g.11976T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.200T=	ENSP00000507849.1:p.Val67=
ENST00000682393.1:c.178+2878T=	ENSP00000506774.1:n.178+2878T=
ENST00000683094.1:c.179-1528T=	ENSP00000508230.1:n.179-1528T=
ENST00000683274.1:c.200T=	ENSP00000507262.1:p.Val67=
ENST00000683435.1:c.*196T=	ENSP00000508092.1:n.*196T=
ENST00000268261.9:c.200T= MANE Select	ENSP00000268261.4:p.Val67=
ENST00000268261.8:c.200T=	ENSP00000268261.4:p.Val67=
ENST00000562318.5:c.179-1528T=	ENSP00000454395.1:n.179-1528T=
ENST00000562448.1:n.220-1528T=
ENST00000564030.5:n.262T=
ENST00000564069.1:c.171T=
ENST00000565221.5:c.178+2878T=	ENSP00000457932.1:n.178+2878T=
ENST00000565896.5:c.*145+2399T=	ENSP00000456024.1:n.*145+2399T=
ENST00000566540.5:c.179-1528T=	ENSP00000454284.1:n.179-1528T=
ENST00000566604.5:c.200T=	ENSP00000456774.1:p.Val67=
ENST00000566983.5:c.119T=	ENSP00000457956.1:p.Val40=
ENST00000568602.5:c.*53T=	ENSP00000455066.1:n.*53T=
ENST00000569958.5:c.178+2878T=	ENSP00000456302.1:n.178+2878T=
ENST00000570076.5:c.178+2878T=	ENSP00000456961.1:n.178+2878T=
ENST00000570134.5:c.179-1528T=	ENSP00000456275.1:n.179-1528T=
NM_000303.2:c.200T=	NP_000294.1:p.Val67=
XM_005255372.3:c.200T=	XP_005255429.1:p.Val67=
XM_005255373.3:c.7-1528T=	XP_005255430.1:n.7-1528T=
XM_005255374.3:c.7-1528T=	XP_005255431.1:n.7-1528T=
XM_011522538.1:c.200T=	XP_011520840.1:p.Val67=
XM_011522539.1:c.-29+2878T=	XP_011520841.1:n.-29+2878T=
XM_005255374.4:c.7-1528T=	XP_005255431.1:n.7-1528T=
NM_000303.3:c.200T= MANE Select	NP_000294.1:p.Val67=