Canonical Allele Identifier: CA2206128236

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797841C= , CM000678.2:g.8797841C=	GRCh38
NC_000016.9:g.8891698C= , CM000678.1:g.8891698C=	GRCh37
NC_000016.8:g.8799199C=	NCBI36
NG_009209.1:g.5029C=
NG_033146.1:g.4808G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.-42C=	ENSP00000507849.1:n.-42C=
ENST00000683094.1:c.-42C=	ENSP00000508230.1:n.-42C=
ENST00000683435.1:c.-42C=	ENSP00000508092.1:n.-42C=
ENST00000268261.9:c.-42C= MANE Select	ENSP00000268261.4:n.-42C=
ENST00000268261.8:c.-42C=	ENSP00000268261.4:n.-42C=
ENST00000564030.5:n.21C=
ENST00000566196.5:n.3C=
ENST00000566604.5:c.-42C=	ENSP00000456774.1:n.-42C=
ENST00000566983.5:c.-15-3958C=	ENSP00000457956.1:n.-15-3958C=
ENST00000570134.5:c.-42C=	ENSP00000456275.1:n.-42C=
NM_000303.2:c.-42C=	NP_000294.1:n.-42C=
XM_005255372.3:c.-42C=	XP_005255429.1:n.-42C=
XM_005255373.3:c.-214C=	XP_005255430.1:n.-214C=
XM_005255374.3:c.-214C=	XP_005255431.1:n.-214C=
XM_011522538.1:c.-42C=	XP_011520840.1:n.-42C=
XM_005255374.4:c.-214C=	XP_005255431.1:n.-214C=
NM_000303.3:c.-42C= MANE Select	NP_000294.1:n.-42C=