Canonical Allele Identifier: CA394694847

Gene: PMM2

Linked Data

• ClinVar Variation Id: 1699797
• ClinVar RCV Id: RCV002273654 ; RCV003096168
• dbSNP Id: rs1473030550
• gnomAD v2: 16-8891779-G-A
• gnomAD v4: 16-8797922-G-A
• MyVariant Identifiers: chr16:g.8891779G>A (hg19) ; chr16:g.8797922G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797922G>A , CM000678.2:g.8797922G>A	GRCh38
NC_000016.9:g.8891779G>A , CM000678.1:g.8891779G>A	GRCh37
NC_000016.8:g.8799280G>A	NCBI36
NG_009209.1:g.5110G>A
NG_033146.1:g.4727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.40G>A	ENSP00000507849.1:p.Asp14Asn
ENST00000682393.1:c.40G>A	ENSP00000506774.1:p.Asp14Asn
ENST00000683094.1:c.40G>A	ENSP00000508230.1:p.Asp14Asn
ENST00000683274.1:c.40G>A	ENSP00000507262.1:p.Asp14Asn
ENST00000683435.1:c.40G>A	ENSP00000508092.1:p.Asp14Asn
ENST00000268261.9:c.40G>A MANE Select	ENSP00000268261.4:p.Asp14Asn
ENST00000268261.8:c.40G>A	ENSP00000268261.4:p.Asp14Asn
ENST00000562318.5:c.40G>A	ENSP00000454395.1:p.Asp14Asn
ENST00000562448.1:n.81G>A
ENST00000564030.5:n.102G>A
ENST00000564069.1:c.11G>A
ENST00000565221.5:c.40G>A	ENSP00000457932.1:p.Asp14Asn
ENST00000565896.5:c.40G>A	ENSP00000456024.1:p.Asp14Asn
ENST00000566196.5:n.84G>A
ENST00000566540.5:c.40G>A	ENSP00000454284.1:p.Asp14Asn
ENST00000566604.5:c.40G>A	ENSP00000456774.1:p.Asp14Asn
ENST00000566983.5:c.-15-3877G>A	ENSP00000457956.1:n.-15-3877G>A
ENST00000568602.5:c.40G>A	ENSP00000455066.1:p.Asp14Asn
ENST00000569958.5:c.40G>A	ENSP00000456302.1:p.Asp14Asn
ENST00000570076.5:c.40G>A	ENSP00000456961.1:p.Asp14Asn
ENST00000570134.5:c.40G>A	ENSP00000456275.1:p.Asp14Asn
NM_000303.2:c.40G>A	NP_000294.1:p.Asp14Asn
XM_005255372.3:c.40G>A	XP_005255429.1:p.Asp14Asn
XM_005255373.3:c.-133G>A	XP_005255430.1:n.-133G>A
XM_005255374.3:c.-133G>A	XP_005255431.1:n.-133G>A
XM_011522538.1:c.40G>A	XP_011520840.1:p.Asp14Asn
XM_005255374.4:c.-133G>A	XP_005255431.1:n.-133G>A
NM_000303.3:c.40G>A MANE Select	NP_000294.1:p.Asp14Asn