Canonical Allele Identifier: CA394689536

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8941624G>C (hg19) ; chr16:g.8847767G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847767G>C , CM000678.2:g.8847767G>C	GRCh38
NC_000016.9:g.8941624G>C , CM000678.1:g.8941624G>C	GRCh37
NC_000016.8:g.8849125G>C	NCBI36
NG_009209.1:g.54955G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3851G>C
ENST00000682393.1:c.*258-1602G>C	ENSP00000506774.1:n.*258-1602G>C
ENST00000683094.1:c.*262-1602G>C	ENSP00000508230.1:n.*262-1602G>C
ENST00000683274.1:c.*180-1602G>C	ENSP00000507262.1:n.*180-1602G>C
ENST00000683435.1:c.*579G>C	ENSP00000508092.1:n.*579G>C
ENST00000268261.9:c.683G>C MANE Select	ENSP00000268261.4:p.Gly228Ala
ENST00000268261.8:c.683G>C	ENSP00000268261.4:p.Gly228Ala
ENST00000562025.1:n.217G>C
ENST00000562318.5:c.*405G>C	ENSP00000454395.1:n.*405G>C
ENST00000565221.5:c.*301G>C	ENSP00000457932.1:n.*301G>C
ENST00000566540.5:c.*305G>C	ENSP00000454284.1:n.*305G>C
ENST00000566604.5:c.*223G>C	ENSP00000456774.1:n.*223G>C
ENST00000566983.5:c.602G>C	ENSP00000457956.1:p.Gly201Ala
ENST00000567697.1:n.3851G>C
ENST00000569958.5:c.410G>C	ENSP00000456302.1:p.Gly137Ala
ENST00000570076.5:c.*141G>C	ENSP00000456961.1:n.*141G>C
NM_000303.2:c.683G>C	NP_000294.1:p.Gly228Ala
XM_005255374.3:c.434G>C	XP_005255431.1:p.Gly145Ala
XM_011522538.1:c.640-7267G>C	XP_011520840.1:n.640-7267G>C
XM_005255374.4:c.434G>C	XP_005255431.1:p.Gly145Ala
NM_000303.3:c.683G>C MANE Select	NP_000294.1:p.Gly228Ala