Canonical Allele Identifier: CA974446273

Gene: PMM2

Linked Data

• dbSNP Id: rs2060937540
• gnomAD v3: 16-8847777-GA-G
• gnomAD v4: 16-8847777-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847778del , CM000678.2:g.8847778del	GRCh38
NC_000016.9:g.8941635del , CM000678.1:g.8941635del	GRCh37
NC_000016.8:g.8849136del	NCBI36
NG_009209.1:g.54966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3862del
ENST00000682393.1:c.*258-1591del	ENSP00000506774.1:n.*258-1591del
ENST00000683094.1:c.*262-1591del	ENSP00000508230.1:n.*262-1591del
ENST00000683274.1:c.*180-1591del	ENSP00000507262.1:n.*180-1591del
ENST00000683435.1:c.*590del	ENSP00000508092.1:n.*590del
ENST00000268261.9:c.694del MANE Select	ENSP00000268261.4:p.Thr232GlnfsTer?
ENST00000268261.8:c.694del	ENSP00000268261.4:p.Thr232GlnfsTer?
ENST00000562025.1:n.228del
ENST00000562318.5:c.*416del	ENSP00000454395.1:n.*416del
ENST00000565221.5:c.*312del	ENSP00000457932.1:n.*312del
ENST00000566540.5:c.*316del	ENSP00000454284.1:n.*316del
ENST00000566604.5:c.*234del	ENSP00000456774.1:n.*234del
ENST00000566983.5:c.613del	ENSP00000457956.1:p.Thr205GlnfsTer?
ENST00000567697.1:n.3862del
ENST00000569958.5:c.421del	ENSP00000456302.1:p.Thr141GlnfsTer?
ENST00000570076.5:c.*152del	ENSP00000456961.1:n.*152del
NM_000303.2:c.694del	NP_000294.1:p.Thr232GlnfsTer?
XM_005255374.3:c.445del	XP_005255431.1:p.Thr149GlnfsTer?
XM_011522538.1:c.640-7256del	XP_011520840.1:n.640-7256del
XM_005255374.4:c.445del	XP_005255431.1:p.Thr149GlnfsTer?
NM_000303.3:c.694del MANE Select	NP_000294.1:p.Thr232GlnfsTer?