Canonical Allele Identifier: CA394689595

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8941635A>G (hg19) ; chr16:g.8847778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847778A>G , CM000678.2:g.8847778A>G	GRCh38
NC_000016.9:g.8941635A>G , CM000678.1:g.8941635A>G	GRCh37
NC_000016.8:g.8849136A>G	NCBI36
NG_009209.1:g.54966A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3862A>G
ENST00000682393.1:c.*258-1591A>G	ENSP00000506774.1:n.*258-1591A>G
ENST00000683094.1:c.*262-1591A>G	ENSP00000508230.1:n.*262-1591A>G
ENST00000683274.1:c.*180-1591A>G	ENSP00000507262.1:n.*180-1591A>G
ENST00000683435.1:c.*590A>G	ENSP00000508092.1:n.*590A>G
ENST00000268261.9:c.694A>G MANE Select	ENSP00000268261.4:p.Thr232Ala
ENST00000268261.8:c.694A>G	ENSP00000268261.4:p.Thr232Ala
ENST00000562025.1:n.228A>G
ENST00000562318.5:c.*416A>G	ENSP00000454395.1:n.*416A>G
ENST00000565221.5:c.*312A>G	ENSP00000457932.1:n.*312A>G
ENST00000566540.5:c.*316A>G	ENSP00000454284.1:n.*316A>G
ENST00000566604.5:c.*234A>G	ENSP00000456774.1:n.*234A>G
ENST00000566983.5:c.613A>G	ENSP00000457956.1:p.Thr205Ala
ENST00000567697.1:n.3862A>G
ENST00000569958.5:c.421A>G	ENSP00000456302.1:p.Thr141Ala
ENST00000570076.5:c.*152A>G	ENSP00000456961.1:n.*152A>G
NM_000303.2:c.694A>G	NP_000294.1:p.Thr232Ala
XM_005255374.3:c.445A>G	XP_005255431.1:p.Thr149Ala
XM_011522538.1:c.640-7256A>G	XP_011520840.1:n.640-7256A>G
XM_005255374.4:c.445A>G	XP_005255431.1:p.Thr149Ala
NM_000303.3:c.694A>G MANE Select	NP_000294.1:p.Thr232Ala