Canonical Allele Identifier: CA394689723

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847823-T-G
• MyVariant Identifiers: chr16:g.8941680T>G (hg19) ; chr16:g.8847823T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847823T>G , CM000678.2:g.8847823T>G	GRCh38
NC_000016.9:g.8941680T>G , CM000678.1:g.8941680T>G	GRCh37
NC_000016.8:g.8849181T>G	NCBI36
NG_009209.1:g.55011T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3907T>G
ENST00000682393.1:c.*258-1546T>G	ENSP00000506774.1:n.*258-1546T>G
ENST00000683094.1:c.*262-1546T>G	ENSP00000508230.1:n.*262-1546T>G
ENST00000683274.1:c.*180-1546T>G	ENSP00000507262.1:n.*180-1546T>G
ENST00000683435.1:c.*635T>G	ENSP00000508092.1:n.*635T>G
ENST00000268261.9:c.739T>G MANE Select	ENSP00000268261.4:p.Ter247Glu
ENST00000268261.8:c.739T>G	ENSP00000268261.4:p.Ter247Glu
ENST00000562025.1:n.273T>G
ENST00000562318.5:c.*461T>G	ENSP00000454395.1:n.*461T>G
ENST00000565221.5:c.*357T>G	ENSP00000457932.1:n.*357T>G
ENST00000566540.5:c.*361T>G	ENSP00000454284.1:n.*361T>G
ENST00000566604.5:c.*279T>G	ENSP00000456774.1:n.*279T>G
ENST00000566983.5:c.658T>G	ENSP00000457956.1:p.Ter220Glu
ENST00000567697.1:n.3907T>G
ENST00000569958.5:c.466T>G	ENSP00000456302.1:p.Ter156Glu
ENST00000570076.5:c.*197T>G	ENSP00000456961.1:n.*197T>G
NM_000303.2:c.739T>G	NP_000294.1:p.Ter247Glu
XM_005255374.3:c.490T>G	XP_005255431.1:p.Ter164Glu
XM_011522538.1:c.640-7211T>G	XP_011520840.1:n.640-7211T>G
XM_005255374.4:c.490T>G	XP_005255431.1:p.Ter164Glu
NM_000303.3:c.739T>G MANE Select	NP_000294.1:p.Ter247Glu