Canonical Allele Identifier: CA2631643620

Gene: PMM2

Linked Data

• gnomAD v4: 16-8810930-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8810930G>A , CM000678.2:g.8810930G>A	GRCh38
NC_000016.9:g.8904787G>A , CM000678.1:g.8904787G>A	GRCh37
NC_000016.8:g.8812288G>A	NCBI36
NG_009209.1:g.18118G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3367G>A
ENST00000682008.1:c.348-149G>A	ENSP00000507849.1:n.348-149G>A
ENST00000682393.1:c.179-149G>A	ENSP00000506774.1:n.179-149G>A
ENST00000683094.1:c.*70-708G>A	ENSP00000508230.1:n.*70-708G>A
ENST00000683274.1:c.348-708G>A	ENSP00000507262.1:n.348-708G>A
ENST00000683435.1:c.*344-708G>A	ENSP00000508092.1:n.*344-708G>A
ENST00000268261.9:c.348-149G>A MANE Select	ENSP00000268261.4:n.348-149G>A
ENST00000268261.8:c.348-149G>A	ENSP00000268261.4:n.348-149G>A
ENST00000562318.5:c.*70-149G>A	ENSP00000454395.1:n.*70-149G>A
ENST00000564069.1:c.319-149G>A
ENST00000565221.5:c.179-149G>A	ENSP00000457932.1:n.179-149G>A
ENST00000565896.5:c.*146-149G>A	ENSP00000456024.1:n.*146-149G>A
ENST00000566540.5:c.*70-708G>A	ENSP00000454284.1:n.*70-708G>A
ENST00000566604.5:c.348-708G>A	ENSP00000456774.1:n.348-708G>A
ENST00000566983.5:c.267-149G>A	ENSP00000457956.1:n.267-149G>A
ENST00000567697.1:n.3367G>A
ENST00000568602.5:c.*201-149G>A	ENSP00000455066.1:n.*201-149G>A
ENST00000569958.5:c.179-712G>A	ENSP00000456302.1:n.179-712G>A
ENST00000570076.5:c.179-708G>A	ENSP00000456961.1:n.179-708G>A
ENST00000570134.5:c.*70-708G>A	ENSP00000456275.1:n.*70-708G>A
NM_000303.2:c.348-149G>A	NP_000294.1:n.348-149G>A
XM_005255372.3:c.348-149G>A	XP_005255429.1:n.348-149G>A
XM_005255373.3:c.99-149G>A	XP_005255430.1:n.99-149G>A
XM_005255374.3:c.99-149G>A	XP_005255431.1:n.99-149G>A
XM_011522538.1:c.348-149G>A	XP_011520840.1:n.348-149G>A
XM_011522539.1:c.-28-149G>A	XP_011520841.1:n.-28-149G>A
XM_005255374.4:c.99-149G>A	XP_005255431.1:n.99-149G>A
NM_000303.3:c.348-149G>A MANE Select	NP_000294.1:n.348-149G>A