Canonical Allele Identifier: CA2631646168

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848009-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848009A>C , CM000678.2:g.8848009A>C	GRCh38
NC_000016.9:g.8941866A>C , CM000678.1:g.8941866A>C	GRCh37
NC_000016.8:g.8849367A>C	NCBI36
NG_009209.1:g.55197A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4093A>C
ENST00000682393.1:c.*258-1360A>C	ENSP00000506774.1:n.*258-1360A>C
ENST00000683094.1:c.*262-1360A>C	ENSP00000508230.1:n.*262-1360A>C
ENST00000683274.1:c.*180-1360A>C	ENSP00000507262.1:n.*180-1360A>C
ENST00000268261.9:c.*184A>C MANE Select	ENSP00000268261.4:n.*184A>C
ENST00000268261.8:c.*184A>C	ENSP00000268261.4:n.*184A>C
ENST00000562025.1:n.459A>C
ENST00000562318.5:c.*647A>C	ENSP00000454395.1:n.*647A>C
ENST00000565221.5:c.*543A>C	ENSP00000457932.1:n.*543A>C
ENST00000566540.5:c.*547A>C	ENSP00000454284.1:n.*547A>C
ENST00000566604.5:c.*465A>C	ENSP00000456774.1:n.*465A>C
ENST00000567697.1:n.4093A>C
ENST00000569958.5:c.*184A>C	ENSP00000456302.1:n.*184A>C
ENST00000570076.5:c.*383A>C	ENSP00000456961.1:n.*383A>C
NM_000303.2:c.*184A>C	NP_000294.1:n.*184A>C
XM_005255374.3:c.*184A>C	XP_005255431.1:n.*184A>C
XM_011522538.1:c.640-7025A>C	XP_011520840.1:n.640-7025A>C
XM_005255374.4:c.*184A>C	XP_005255431.1:n.*184A>C
NM_000303.3:c.*184A>C MANE Select	NP_000294.1:n.*184A>C