Canonical Allele Identifier: CA7894228

Gene: PMM2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847842G>A , CM000678.2:g.8847842G>A	GRCh38
NC_000016.9:g.8941699G>A , CM000678.1:g.8941699G>A	GRCh37
NC_000016.8:g.8849200G>A	NCBI36
NG_009209.1:g.55030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3926G>A
ENST00000682393.1:c.*258-1527G>A	ENSP00000506774.1:n.*258-1527G>A
ENST00000683094.1:c.*262-1527G>A	ENSP00000508230.1:n.*262-1527G>A
ENST00000683274.1:c.*180-1527G>A	ENSP00000507262.1:n.*180-1527G>A
ENST00000683435.1:c.*654G>A	ENSP00000508092.1:n.*654G>A
ENST00000268261.9:c.*17G>A MANE Select	ENSP00000268261.4:n.*17G>A
ENST00000268261.8:c.*17G>A	ENSP00000268261.4:n.*17G>A
ENST00000562025.1:n.292G>A
ENST00000562318.5:c.*480G>A	ENSP00000454395.1:n.*480G>A
ENST00000565221.5:c.*376G>A	ENSP00000457932.1:n.*376G>A
ENST00000566540.5:c.*380G>A	ENSP00000454284.1:n.*380G>A
ENST00000566604.5:c.*298G>A	ENSP00000456774.1:n.*298G>A
ENST00000566983.5:c.*17G>A	ENSP00000457956.1:n.*17G>A
ENST00000567697.1:n.3926G>A
ENST00000569958.5:c.*17G>A	ENSP00000456302.1:n.*17G>A
ENST00000570076.5:c.*216G>A	ENSP00000456961.1:n.*216G>A
NM_000303.2:c.*17G>A	NP_000294.1:n.*17G>A
XM_005255374.3:c.*17G>A	XP_005255431.1:n.*17G>A
XM_011522538.1:c.640-7192G>A	XP_011520840.1:n.640-7192G>A
XM_005255374.4:c.*17G>A	XP_005255431.1:n.*17G>A
NM_000303.3:c.*17G>A MANE Select	NP_000294.1:n.*17G>A