Canonical Allele Identifier: CA2206128228

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797832C= , CM000678.2:g.8797832C=	GRCh38
NC_000016.9:g.8891689C= , CM000678.1:g.8891689C=	GRCh37
NC_000016.8:g.8799190C=	NCBI36
NG_009209.1:g.5020C=
NG_033146.1:g.4817G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.-51C=	ENSP00000507849.1:n.-51C=
ENST00000683094.1:c.-51C=	ENSP00000508230.1:n.-51C=
ENST00000683435.1:c.-51C=	ENSP00000508092.1:n.-51C=
ENST00000268261.8:c.-51C=	ENSP00000268261.4:n.-51C=
ENST00000564030.5:n.12C=
ENST00000566983.5:c.-15-3967C=	ENSP00000457956.1:n.-15-3967C=
NM_000303.2:c.-51C=	NP_000294.1:n.-51C=
XM_005255372.3:c.-51C=	XP_005255429.1:n.-51C=
XM_005255373.3:c.-223C=	XP_005255430.1:n.-223C=
XM_005255374.3:c.-223C=	XP_005255431.1:n.-223C=
XM_011522538.1:c.-51C=	XP_011520840.1:n.-51C=
XM_005255374.4:c.-223C=	XP_005255431.1:n.-223C=