Canonical Allele Identifier: CA493489385

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847813-G-T
• MyVariant Identifiers: chr16:g.8941670G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847813G>T , CM000678.2:g.8847813G>T	GRCh38
NC_000016.9:g.8941670G>T , CM000678.1:g.8941670G>T	GRCh37
NC_000016.8:g.8849171G>T	NCBI36
NG_009209.1:g.55001G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3897G>T
ENST00000682393.1:c.*258-1556G>T	ENSP00000506774.1:n.*258-1556G>T
ENST00000683094.1:c.*262-1556G>T	ENSP00000508230.1:n.*262-1556G>T
ENST00000683274.1:c.*180-1556G>T	ENSP00000507262.1:n.*180-1556G>T
ENST00000683435.1:c.*625G>T	ENSP00000508092.1:n.*625G>T
ENST00000268261.9:c.729G>T MANE Select	ENSP00000268261.4:p.Leu243=
ENST00000268261.8:c.729G>T	ENSP00000268261.4:p.Leu243=
ENST00000562025.1:n.263G>T
ENST00000562318.5:c.*451G>T	ENSP00000454395.1:n.*451G>T
ENST00000565221.5:c.*347G>T	ENSP00000457932.1:n.*347G>T
ENST00000566540.5:c.*351G>T	ENSP00000454284.1:n.*351G>T
ENST00000566604.5:c.*269G>T	ENSP00000456774.1:n.*269G>T
ENST00000566983.5:c.648G>T	ENSP00000457956.1:p.Leu216=
ENST00000567697.1:n.3897G>T
ENST00000569958.5:c.456G>T	ENSP00000456302.1:p.Leu152=
ENST00000570076.5:c.*187G>T	ENSP00000456961.1:n.*187G>T
NM_000303.2:c.729G>T	NP_000294.1:p.Leu243=
XM_005255374.3:c.480G>T	XP_005255431.1:p.Leu160=
XM_011522538.1:c.640-7221G>T	XP_011520840.1:n.640-7221G>T
XM_005255374.4:c.480G>T	XP_005255431.1:p.Leu160=
NM_000303.3:c.729G>T MANE Select	NP_000294.1:p.Leu243=