Canonical Allele Identifier: CA493489515

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8941729G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847872G>C , CM000678.2:g.8847872G>C	GRCh38
NC_000016.9:g.8941729G>C , CM000678.1:g.8941729G>C	GRCh37
NC_000016.8:g.8849230G>C	NCBI36
NG_009209.1:g.55060G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3956G>C
ENST00000682393.1:c.*258-1497G>C	ENSP00000506774.1:n.*258-1497G>C
ENST00000683094.1:c.*262-1497G>C	ENSP00000508230.1:n.*262-1497G>C
ENST00000683274.1:c.*180-1497G>C	ENSP00000507262.1:n.*180-1497G>C
ENST00000683435.1:c.*684G>C	ENSP00000508092.1:n.*684G>C
ENST00000268261.9:c.*47G>C MANE Select	ENSP00000268261.4:n.*47G>C
ENST00000268261.8:c.*47G>C	ENSP00000268261.4:n.*47G>C
ENST00000562025.1:n.322G>C
ENST00000562318.5:c.*510G>C	ENSP00000454395.1:n.*510G>C
ENST00000565221.5:c.*406G>C	ENSP00000457932.1:n.*406G>C
ENST00000566540.5:c.*410G>C	ENSP00000454284.1:n.*410G>C
ENST00000566604.5:c.*328G>C	ENSP00000456774.1:n.*328G>C
ENST00000567697.1:n.3956G>C
ENST00000569958.5:c.*47G>C	ENSP00000456302.1:n.*47G>C
ENST00000570076.5:c.*246G>C	ENSP00000456961.1:n.*246G>C
NM_000303.2:c.*47G>C	NP_000294.1:n.*47G>C
XM_005255374.3:c.*47G>C	XP_005255431.1:n.*47G>C
XM_011522538.1:c.640-7162G>C	XP_011520840.1:n.640-7162G>C
XM_005255374.4:c.*47G>C	XP_005255431.1:n.*47G>C
NM_000303.3:c.*47G>C MANE Select	NP_000294.1:n.*47G>C