Canonical Allele Identifier: CA2206135654

Gene: PMM2

Linked Data

• dbSNP Id: rs2060674098
• gnomAD v4: 16-8811019-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811019C>T , CM000678.2:g.8811019C>T	GRCh38
NC_000016.9:g.8904876C>T , CM000678.1:g.8904876C>T	GRCh37
NC_000016.8:g.8812377C>T	NCBI36
NG_009209.1:g.18207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3456C>T
ENST00000682008.1:c.348-60C>T	ENSP00000507849.1:n.348-60C>T
ENST00000682393.1:c.179-60C>T	ENSP00000506774.1:n.179-60C>T
ENST00000683094.1:c.*70-619C>T	ENSP00000508230.1:n.*70-619C>T
ENST00000683274.1:c.348-619C>T	ENSP00000507262.1:n.348-619C>T
ENST00000683435.1:c.*344-619C>T	ENSP00000508092.1:n.*344-619C>T
ENST00000268261.9:c.348-60C>T MANE Select	ENSP00000268261.4:n.348-60C>T
ENST00000268261.8:c.348-60C>T	ENSP00000268261.4:n.348-60C>T
ENST00000562318.5:c.*70-60C>T	ENSP00000454395.1:n.*70-60C>T
ENST00000564069.1:c.319-60C>T
ENST00000565221.5:c.179-60C>T	ENSP00000457932.1:n.179-60C>T
ENST00000565896.5:c.*146-60C>T	ENSP00000456024.1:n.*146-60C>T
ENST00000566540.5:c.*70-619C>T	ENSP00000454284.1:n.*70-619C>T
ENST00000566604.5:c.348-619C>T	ENSP00000456774.1:n.348-619C>T
ENST00000566983.5:c.267-60C>T	ENSP00000457956.1:n.267-60C>T
ENST00000567697.1:n.3456C>T
ENST00000568602.5:c.*201-60C>T	ENSP00000455066.1:n.*201-60C>T
ENST00000569958.5:c.179-623C>T	ENSP00000456302.1:n.179-623C>T
ENST00000570076.5:c.179-619C>T	ENSP00000456961.1:n.179-619C>T
ENST00000570134.5:c.*70-619C>T	ENSP00000456275.1:n.*70-619C>T
NM_000303.2:c.348-60C>T	NP_000294.1:n.348-60C>T
XM_005255372.3:c.348-60C>T	XP_005255429.1:n.348-60C>T
XM_005255373.3:c.99-60C>T	XP_005255430.1:n.99-60C>T
XM_005255374.3:c.99-60C>T	XP_005255431.1:n.99-60C>T
XM_011522538.1:c.348-60C>T	XP_011520840.1:n.348-60C>T
XM_011522539.1:c.-28-60C>T	XP_011520841.1:n.-28-60C>T
XM_005255374.4:c.99-60C>T	XP_005255431.1:n.99-60C>T
NM_000303.3:c.348-60C>T MANE Select	NP_000294.1:n.348-60C>T