Canonical Allele Identifier: CA658824504

Gene: PMM2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847699_8847702dup , CM000678.2:g.8847699_8847702dup	GRCh38
NC_000016.9:g.8941556_8941559dup , CM000678.1:g.8941556_8941559dup	GRCh37
NC_000016.8:g.8849057_8849060dup	NCBI36
NG_009209.1:g.54887_54890dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3808-25_3808-22dup
ENST00000682393.1:c.*258-1670_*258-1667dup	ENSP00000506774.1:n.*258-1670_*258-1667dup
ENST00000683094.1:c.*262-1670_*262-1667dup	ENSP00000508230.1:n.*262-1670_*262-1667dup
ENST00000683274.1:c.*180-1670_*180-1667dup	ENSP00000507262.1:n.*180-1670_*180-1667dup
ENST00000683435.1:c.*536-25_*536-22dup	ENSP00000508092.1:n.*536-25_*536-22dup
ENST00000268261.9:c.640-25_640-22dup MANE Select	ENSP00000268261.4:n.640-25_640-22dup
ENST00000268261.8:c.640-25_640-22dup	ENSP00000268261.4:n.640-25_640-22dup
ENST00000562025.1:n.174-25_174-22dup
ENST00000562318.5:c.*362-25_*362-22dup	ENSP00000454395.1:n.*362-25_*362-22dup
ENST00000565221.5:c.*258-25_*258-22dup	ENSP00000457932.1:n.*258-25_*258-22dup
ENST00000566540.5:c.*262-25_*262-22dup	ENSP00000454284.1:n.*262-25_*262-22dup
ENST00000566604.5:c.*180-25_*180-22dup	ENSP00000456774.1:n.*180-25_*180-22dup
ENST00000566983.5:c.559-25_559-22dup	ENSP00000457956.1:n.559-25_559-22dup
ENST00000567697.1:n.3808-25_3808-22dup
ENST00000569958.5:c.367-25_367-22dup	ENSP00000456302.1:n.367-25_367-22dup
ENST00000570076.5:c.*98-25_*98-22dup	ENSP00000456961.1:n.*98-25_*98-22dup
NM_000303.2:c.640-25_640-22dup	NP_000294.1:n.640-25_640-22dup
XM_005255374.3:c.391-25_391-22dup	XP_005255431.1:n.391-25_391-22dup
XM_011522538.1:c.640-7335_640-7332dup	XP_011520840.1:n.640-7335_640-7332dup
XM_005255374.4:c.391-25_391-22dup	XP_005255431.1:n.391-25_391-22dup
NM_000303.3:c.640-25_640-22dup MANE Select	NP_000294.1:n.640-25_640-22dup