Canonical Allele Identifier: CA277488288

Gene: PMM2

Linked Data

• dbSNP Id: rs112969947
• gnomAD v2: 16-8898466-C-A
• gnomAD v3: 16-8804609-C-A
• gnomAD v4: 16-8804609-C-A
• MyVariant Identifiers: chr16:g.8898466C>A (hg19) ; chr16:g.8804609C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804609C>A , CM000678.2:g.8804609C>A	GRCh38
NC_000016.9:g.8898466C>A , CM000678.1:g.8898466C>A	GRCh37
NC_000016.8:g.8805967C>A	NCBI36
NG_009209.1:g.11797C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.179-158C>A	ENSP00000507849.1:n.179-158C>A
ENST00000682393.1:c.178+2699C>A	ENSP00000506774.1:n.178+2699C>A
ENST00000683094.1:c.179-1707C>A	ENSP00000508230.1:n.179-1707C>A
ENST00000683274.1:c.179-158C>A	ENSP00000507262.1:n.179-158C>A
ENST00000683435.1:c.*175-158C>A	ENSP00000508092.1:n.*175-158C>A
ENST00000268261.9:c.179-158C>A MANE Select	ENSP00000268261.4:n.179-158C>A
ENST00000268261.8:c.179-158C>A	ENSP00000268261.4:n.179-158C>A
ENST00000562318.5:c.179-1707C>A	ENSP00000454395.1:n.179-1707C>A
ENST00000562448.1:n.220-1707C>A
ENST00000564030.5:n.241-158C>A
ENST00000564069.1:c.150-158C>A
ENST00000565221.5:c.178+2699C>A	ENSP00000457932.1:n.178+2699C>A
ENST00000565896.5:c.*145+2220C>A	ENSP00000456024.1:n.*145+2220C>A
ENST00000566540.5:c.179-1707C>A	ENSP00000454284.1:n.179-1707C>A
ENST00000566604.5:c.179-158C>A	ENSP00000456774.1:n.179-158C>A
ENST00000566983.5:c.98-158C>A	ENSP00000457956.1:n.98-158C>A
ENST00000568602.5:c.*32-158C>A	ENSP00000455066.1:n.*32-158C>A
ENST00000569958.5:c.178+2699C>A	ENSP00000456302.1:n.178+2699C>A
ENST00000570076.5:c.178+2699C>A	ENSP00000456961.1:n.178+2699C>A
ENST00000570134.5:c.179-1707C>A	ENSP00000456275.1:n.179-1707C>A
NM_000303.2:c.179-158C>A	NP_000294.1:n.179-158C>A
XM_005255372.3:c.179-158C>A	XP_005255429.1:n.179-158C>A
XM_005255373.3:c.7-1707C>A	XP_005255430.1:n.7-1707C>A
XM_005255374.3:c.7-1707C>A	XP_005255431.1:n.7-1707C>A
XM_011522538.1:c.179-158C>A	XP_011520840.1:n.179-158C>A
XM_011522539.1:c.-29+2699C>A	XP_011520841.1:n.-29+2699C>A
XM_005255374.4:c.7-1707C>A	XP_005255431.1:n.7-1707C>A
NM_000303.3:c.179-158C>A MANE Select	NP_000294.1:n.179-158C>A