Canonical Allele Identifier: CA2631643893

Gene: PMM2

Linked Data

• ClinVar Variation Id: 2881801
• ClinVar RCV Id: RCV003619435
• gnomAD v4: 16-8811075-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811075C>T , CM000678.2:g.8811075C>T	GRCh38
NC_000016.9:g.8904932C>T , CM000678.1:g.8904932C>T	GRCh37
NC_000016.8:g.8812433C>T	NCBI36
NG_009209.1:g.18263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3512C>T
ENST00000682008.1:c.348-4C>T	ENSP00000507849.1:n.348-4C>T
ENST00000682393.1:c.179-4C>T	ENSP00000506774.1:n.179-4C>T
ENST00000683094.1:c.*70-563C>T	ENSP00000508230.1:n.*70-563C>T
ENST00000683274.1:c.348-563C>T	ENSP00000507262.1:n.348-563C>T
ENST00000683435.1:c.*344-563C>T	ENSP00000508092.1:n.*344-563C>T
ENST00000268261.9:c.348-4C>T MANE Select	ENSP00000268261.4:n.348-4C>T
ENST00000268261.8:c.348-4C>T	ENSP00000268261.4:n.348-4C>T
ENST00000562318.5:c.*70-4C>T	ENSP00000454395.1:n.*70-4C>T
ENST00000564069.1:c.319-4C>T
ENST00000565221.5:c.179-4C>T	ENSP00000457932.1:n.179-4C>T
ENST00000565896.5:c.*146-4C>T	ENSP00000456024.1:n.*146-4C>T
ENST00000566540.5:c.*70-563C>T	ENSP00000454284.1:n.*70-563C>T
ENST00000566604.5:c.348-563C>T	ENSP00000456774.1:n.348-563C>T
ENST00000566983.5:c.267-4C>T	ENSP00000457956.1:n.267-4C>T
ENST00000567697.1:n.3512C>T
ENST00000568602.5:c.*201-4C>T	ENSP00000455066.1:n.*201-4C>T
ENST00000569958.5:c.179-567C>T	ENSP00000456302.1:n.179-567C>T
ENST00000570076.5:c.179-563C>T	ENSP00000456961.1:n.179-563C>T
ENST00000570134.5:c.*70-563C>T	ENSP00000456275.1:n.*70-563C>T
NM_000303.2:c.348-4C>T	NP_000294.1:n.348-4C>T
XM_005255372.3:c.348-4C>T	XP_005255429.1:n.348-4C>T
XM_005255373.3:c.99-4C>T	XP_005255430.1:n.99-4C>T
XM_005255374.3:c.99-4C>T	XP_005255431.1:n.99-4C>T
XM_011522538.1:c.348-4C>T	XP_011520840.1:n.348-4C>T
XM_011522539.1:c.-28-4C>T	XP_011520841.1:n.-28-4C>T
XM_005255374.4:c.99-4C>T	XP_005255431.1:n.99-4C>T
NM_000303.3:c.348-4C>T MANE Select	NP_000294.1:n.348-4C>T