Canonical Allele Identifier: CA974434884

Gene: PMM2

Linked Data

• dbSNP Id: rs2060636023
• gnomAD v3: 16-8804628-C-G
• gnomAD v4: 16-8804628-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804628C>G , CM000678.2:g.8804628C>G	GRCh38
NC_000016.9:g.8898485C>G , CM000678.1:g.8898485C>G	GRCh37
NC_000016.8:g.8805986C>G	NCBI36
NG_009209.1:g.11816C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.179-139C>G	ENSP00000507849.1:n.179-139C>G
ENST00000682393.1:c.178+2718C>G	ENSP00000506774.1:n.178+2718C>G
ENST00000683094.1:c.179-1688C>G	ENSP00000508230.1:n.179-1688C>G
ENST00000683274.1:c.179-139C>G	ENSP00000507262.1:n.179-139C>G
ENST00000683435.1:c.*175-139C>G	ENSP00000508092.1:n.*175-139C>G
ENST00000268261.9:c.179-139C>G MANE Select	ENSP00000268261.4:n.179-139C>G
ENST00000268261.8:c.179-139C>G	ENSP00000268261.4:n.179-139C>G
ENST00000562318.5:c.179-1688C>G	ENSP00000454395.1:n.179-1688C>G
ENST00000562448.1:n.220-1688C>G
ENST00000564030.5:n.241-139C>G
ENST00000564069.1:c.150-139C>G
ENST00000565221.5:c.178+2718C>G	ENSP00000457932.1:n.178+2718C>G
ENST00000565896.5:c.*145+2239C>G	ENSP00000456024.1:n.*145+2239C>G
ENST00000566540.5:c.179-1688C>G	ENSP00000454284.1:n.179-1688C>G
ENST00000566604.5:c.179-139C>G	ENSP00000456774.1:n.179-139C>G
ENST00000566983.5:c.98-139C>G	ENSP00000457956.1:n.98-139C>G
ENST00000568602.5:c.*32-139C>G	ENSP00000455066.1:n.*32-139C>G
ENST00000569958.5:c.178+2718C>G	ENSP00000456302.1:n.178+2718C>G
ENST00000570076.5:c.178+2718C>G	ENSP00000456961.1:n.178+2718C>G
ENST00000570134.5:c.179-1688C>G	ENSP00000456275.1:n.179-1688C>G
NM_000303.2:c.179-139C>G	NP_000294.1:n.179-139C>G
XM_005255372.3:c.179-139C>G	XP_005255429.1:n.179-139C>G
XM_005255373.3:c.7-1688C>G	XP_005255430.1:n.7-1688C>G
XM_005255374.3:c.7-1688C>G	XP_005255431.1:n.7-1688C>G
XM_011522538.1:c.179-139C>G	XP_011520840.1:n.179-139C>G
XM_011522539.1:c.-29+2718C>G	XP_011520841.1:n.-29+2718C>G
XM_005255374.4:c.7-1688C>G	XP_005255431.1:n.7-1688C>G
NM_000303.3:c.179-139C>G MANE Select	NP_000294.1:n.179-139C>G