Canonical Allele Identifier: CA2631646143

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847992-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847992T>G , CM000678.2:g.8847992T>G	GRCh38
NC_000016.9:g.8941849T>G , CM000678.1:g.8941849T>G	GRCh37
NC_000016.8:g.8849350T>G	NCBI36
NG_009209.1:g.55180T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4076T>G
ENST00000682393.1:c.*258-1377T>G	ENSP00000506774.1:n.*258-1377T>G
ENST00000683094.1:c.*262-1377T>G	ENSP00000508230.1:n.*262-1377T>G
ENST00000683274.1:c.*180-1377T>G	ENSP00000507262.1:n.*180-1377T>G
ENST00000268261.9:c.*167T>G MANE Select	ENSP00000268261.4:n.*167T>G
ENST00000268261.8:c.*167T>G	ENSP00000268261.4:n.*167T>G
ENST00000562025.1:n.442T>G
ENST00000562318.5:c.*630T>G	ENSP00000454395.1:n.*630T>G
ENST00000565221.5:c.*526T>G	ENSP00000457932.1:n.*526T>G
ENST00000566540.5:c.*530T>G	ENSP00000454284.1:n.*530T>G
ENST00000566604.5:c.*448T>G	ENSP00000456774.1:n.*448T>G
ENST00000567697.1:n.4076T>G
ENST00000569958.5:c.*167T>G	ENSP00000456302.1:n.*167T>G
ENST00000570076.5:c.*366T>G	ENSP00000456961.1:n.*366T>G
NM_000303.2:c.*167T>G	NP_000294.1:n.*167T>G
XM_005255374.3:c.*167T>G	XP_005255431.1:n.*167T>G
XM_011522538.1:c.640-7042T>G	XP_011520840.1:n.640-7042T>G
XM_005255374.4:c.*167T>G	XP_005255431.1:n.*167T>G
NM_000303.3:c.*167T>G MANE Select	NP_000294.1:n.*167T>G