Canonical Allele Identifier: CA493489361

Gene: PMM2

Linked Data

• dbSNP Id: rs761946981
• MyVariant Identifiers: chr16:g.8941634G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847777G>C , CM000678.2:g.8847777G>C	GRCh38
NC_000016.9:g.8941634G>C , CM000678.1:g.8941634G>C	GRCh37
NC_000016.8:g.8849135G>C	NCBI36
NG_009209.1:g.54965G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3861G>C
ENST00000682393.1:c.*258-1592G>C	ENSP00000506774.1:n.*258-1592G>C
ENST00000683094.1:c.*262-1592G>C	ENSP00000508230.1:n.*262-1592G>C
ENST00000683274.1:c.*180-1592G>C	ENSP00000507262.1:n.*180-1592G>C
ENST00000683435.1:c.*589G>C	ENSP00000508092.1:n.*589G>C
ENST00000268261.9:c.693G>C MANE Select	ENSP00000268261.4:p.Val231=
ENST00000268261.8:c.693G>C	ENSP00000268261.4:p.Val231=
ENST00000562025.1:n.227G>C
ENST00000562318.5:c.*415G>C	ENSP00000454395.1:n.*415G>C
ENST00000565221.5:c.*311G>C	ENSP00000457932.1:n.*311G>C
ENST00000566540.5:c.*315G>C	ENSP00000454284.1:n.*315G>C
ENST00000566604.5:c.*233G>C	ENSP00000456774.1:n.*233G>C
ENST00000566983.5:c.612G>C	ENSP00000457956.1:p.Val204=
ENST00000567697.1:n.3861G>C
ENST00000569958.5:c.420G>C	ENSP00000456302.1:p.Val140=
ENST00000570076.5:c.*151G>C	ENSP00000456961.1:n.*151G>C
NM_000303.2:c.693G>C	NP_000294.1:p.Val231=
XM_005255374.3:c.444G>C	XP_005255431.1:p.Val148=
XM_011522538.1:c.640-7257G>C	XP_011520840.1:n.640-7257G>C
XM_005255374.4:c.444G>C	XP_005255431.1:p.Val148=
NM_000303.3:c.693G>C MANE Select	NP_000294.1:p.Val231=