Canonical Allele Identifier: CA2631646156

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847998-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847998A>T , CM000678.2:g.8847998A>T	GRCh38
NC_000016.9:g.8941855A>T , CM000678.1:g.8941855A>T	GRCh37
NC_000016.8:g.8849356A>T	NCBI36
NG_009209.1:g.55186A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4082A>T
ENST00000682393.1:c.*258-1371A>T	ENSP00000506774.1:n.*258-1371A>T
ENST00000683094.1:c.*262-1371A>T	ENSP00000508230.1:n.*262-1371A>T
ENST00000683274.1:c.*180-1371A>T	ENSP00000507262.1:n.*180-1371A>T
ENST00000268261.9:c.*173A>T MANE Select	ENSP00000268261.4:n.*173A>T
ENST00000268261.8:c.*173A>T	ENSP00000268261.4:n.*173A>T
ENST00000562025.1:n.448A>T
ENST00000562318.5:c.*636A>T	ENSP00000454395.1:n.*636A>T
ENST00000565221.5:c.*532A>T	ENSP00000457932.1:n.*532A>T
ENST00000566540.5:c.*536A>T	ENSP00000454284.1:n.*536A>T
ENST00000566604.5:c.*454A>T	ENSP00000456774.1:n.*454A>T
ENST00000567697.1:n.4082A>T
ENST00000569958.5:c.*173A>T	ENSP00000456302.1:n.*173A>T
ENST00000570076.5:c.*372A>T	ENSP00000456961.1:n.*372A>T
NM_000303.2:c.*173A>T	NP_000294.1:n.*173A>T
XM_005255374.3:c.*173A>T	XP_005255431.1:n.*173A>T
XM_011522538.1:c.640-7036A>T	XP_011520840.1:n.640-7036A>T
XM_005255374.4:c.*173A>T	XP_005255431.1:n.*173A>T
NM_000303.3:c.*173A>T MANE Select	NP_000294.1:n.*173A>T