Canonical Allele Identifier: CA2206128230

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797836T= , CM000678.2:g.8797836T=	GRCh38
NC_000016.9:g.8891693T= , CM000678.1:g.8891693T=	GRCh37
NC_000016.8:g.8799194T=	NCBI36
NG_009209.1:g.5024T=
NG_033146.1:g.4813A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.-47T=	ENSP00000507849.1:n.-47T=
ENST00000683094.1:c.-47T=	ENSP00000508230.1:n.-47T=
ENST00000683435.1:c.-47T=	ENSP00000508092.1:n.-47T=
ENST00000268261.8:c.-47T=	ENSP00000268261.4:n.-47T=
ENST00000564030.5:n.16T=
ENST00000566983.5:c.-15-3963T=	ENSP00000457956.1:n.-15-3963T=
NM_000303.2:c.-47T=	NP_000294.1:n.-47T=
XM_005255372.3:c.-47T=	XP_005255429.1:n.-47T=
XM_005255373.3:c.-219T=	XP_005255430.1:n.-219T=
XM_005255374.3:c.-219T=	XP_005255431.1:n.-219T=
XM_011522538.1:c.-47T=	XP_011520840.1:n.-47T=
XM_005255374.4:c.-219T=	XP_005255431.1:n.-219T=