Canonical Allele Identifier: CA394689703

Gene: PMM2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847812T>C , CM000678.2:g.8847812T>C	GRCh38
NC_000016.9:g.8941669T>C , CM000678.1:g.8941669T>C	GRCh37
NC_000016.8:g.8849170T>C	NCBI36
NG_009209.1:g.55000T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3896T>C
ENST00000682393.1:c.*258-1557T>C	ENSP00000506774.1:n.*258-1557T>C
ENST00000683094.1:c.*262-1557T>C	ENSP00000508230.1:n.*262-1557T>C
ENST00000683274.1:c.*180-1557T>C	ENSP00000507262.1:n.*180-1557T>C
ENST00000683435.1:c.*624T>C	ENSP00000508092.1:n.*624T>C
ENST00000268261.9:c.728T>C MANE Select	ENSP00000268261.4:p.Leu243Pro
ENST00000268261.8:c.728T>C	ENSP00000268261.4:p.Leu243Pro
ENST00000562025.1:n.262T>C
ENST00000562318.5:c.*450T>C	ENSP00000454395.1:n.*450T>C
ENST00000565221.5:c.*346T>C	ENSP00000457932.1:n.*346T>C
ENST00000566540.5:c.*350T>C	ENSP00000454284.1:n.*350T>C
ENST00000566604.5:c.*268T>C	ENSP00000456774.1:n.*268T>C
ENST00000566983.5:c.647T>C	ENSP00000457956.1:p.Leu216Pro
ENST00000567697.1:n.3896T>C
ENST00000569958.5:c.455T>C	ENSP00000456302.1:p.Leu152Pro
ENST00000570076.5:c.*186T>C	ENSP00000456961.1:n.*186T>C
NM_000303.2:c.728T>C	NP_000294.1:p.Leu243Pro
XM_005255374.3:c.479T>C	XP_005255431.1:p.Leu160Pro
XM_011522538.1:c.640-7222T>C	XP_011520840.1:n.640-7222T>C
XM_005255374.4:c.479T>C	XP_005255431.1:p.Leu160Pro
NM_000303.3:c.728T>C MANE Select	NP_000294.1:p.Leu243Pro