Canonical Allele Identifier: CA7894040

Gene: PMM2

Linked Data

• ClinVar Variation Id: 265255
• ClinVar RCV Id: RCV000254854 ; RCV000576764
• dbSNP Id: rs141498002
• ExAC: 16:8904956 G / A
• gnomAD v2: 16-8904956-G-A
• gnomAD v3: 16-8811099-G-A
• gnomAD v4: 16-8811099-G-A
• MyVariant Identifiers: chr16:g.8904956G>A (hg19) ; chr16:g.8811099G>A (hg38)
• PubMed: PMID:9497260 ; PMID:11156536 ; PMID:11409861 ; PMID:11715002 ; PMID:15844218 ; PMID:17166182 ; PMID:21541725 ; PMID:25355454 ; PMID:25497157 ; PMID:26014514

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811099G>A , CM000678.2:g.8811099G>A	GRCh38
NC_000016.9:g.8904956G>A , CM000678.1:g.8904956G>A	GRCh37
NC_000016.8:g.8812457G>A	NCBI36
NG_009209.1:g.18287G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3536G>A
ENST00000682008.1:c.368G>A	ENSP00000507849.1:p.Arg123Gln
ENST00000682393.1:c.199G>A	ENSP00000506774.1:p.Glu67Lys
ENST00000683094.1:c.*70-539G>A	ENSP00000508230.1:n.*70-539G>A
ENST00000683274.1:c.348-539G>A	ENSP00000507262.1:n.348-539G>A
ENST00000683435.1:c.*344-539G>A	ENSP00000508092.1:n.*344-539G>A
ENST00000268261.9:c.368G>A MANE Select	ENSP00000268261.4:p.Arg123Gln
ENST00000268261.8:c.368G>A	ENSP00000268261.4:p.Arg123Gln
ENST00000562318.5:c.*90G>A	ENSP00000454395.1:n.*90G>A
ENST00000564069.1:c.339G>A
ENST00000565221.5:c.199G>A	ENSP00000457932.1:p.Glu67Lys
ENST00000565896.5:c.*166G>A	ENSP00000456024.1:n.*166G>A
ENST00000566540.5:c.*70-539G>A	ENSP00000454284.1:n.*70-539G>A
ENST00000566604.5:c.348-539G>A	ENSP00000456774.1:n.348-539G>A
ENST00000566983.5:c.287G>A	ENSP00000457956.1:p.Arg96Gln
ENST00000567697.1:n.3536G>A
ENST00000568602.5:c.*221G>A	ENSP00000455066.1:n.*221G>A
ENST00000569958.5:c.179-543G>A	ENSP00000456302.1:n.179-543G>A
ENST00000570076.5:c.179-539G>A	ENSP00000456961.1:n.179-539G>A
ENST00000570134.5:c.*70-539G>A	ENSP00000456275.1:n.*70-539G>A
NM_000303.2:c.368G>A	NP_000294.1:p.Arg123Gln
XM_005255372.3:c.368G>A	XP_005255429.1:p.Arg123Gln
XM_005255373.3:c.119G>A	XP_005255430.1:p.Arg40Gln
XM_005255374.3:c.119G>A	XP_005255431.1:p.Arg40Gln
XM_011522538.1:c.368G>A	XP_011520840.1:p.Arg123Gln
XM_011522539.1:c.-8G>A	XP_011520841.1:n.-8G>A
XM_005255374.4:c.119G>A	XP_005255431.1:p.Arg40Gln
NM_000303.3:c.368G>A MANE Select	NP_000294.1:p.Arg123Gln