Canonical Allele Identifier: CA914065388

Gene: PMM2

Linked Data

• dbSNP Id: rs1567172239
• gnomAD v2: 16-8941850-T-C
• gnomAD v3: 16-8847993-T-C
• gnomAD v4: 16-8847993-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847993T>C , CM000678.2:g.8847993T>C	GRCh38
NC_000016.9:g.8941850T>C , CM000678.1:g.8941850T>C	GRCh37
NC_000016.8:g.8849351T>C	NCBI36
NG_009209.1:g.55181T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4077T>C
ENST00000682393.1:c.*258-1376T>C	ENSP00000506774.1:n.*258-1376T>C
ENST00000683094.1:c.*262-1376T>C	ENSP00000508230.1:n.*262-1376T>C
ENST00000683274.1:c.*180-1376T>C	ENSP00000507262.1:n.*180-1376T>C
ENST00000268261.9:c.*168T>C MANE Select	ENSP00000268261.4:n.*168T>C
ENST00000268261.8:c.*168T>C	ENSP00000268261.4:n.*168T>C
ENST00000562025.1:n.443T>C
ENST00000562318.5:c.*631T>C	ENSP00000454395.1:n.*631T>C
ENST00000565221.5:c.*527T>C	ENSP00000457932.1:n.*527T>C
ENST00000566540.5:c.*531T>C	ENSP00000454284.1:n.*531T>C
ENST00000566604.5:c.*449T>C	ENSP00000456774.1:n.*449T>C
ENST00000567697.1:n.4077T>C
ENST00000569958.5:c.*168T>C	ENSP00000456302.1:n.*168T>C
ENST00000570076.5:c.*367T>C	ENSP00000456961.1:n.*367T>C
NM_000303.2:c.*168T>C	NP_000294.1:n.*168T>C
XM_005255374.3:c.*168T>C	XP_005255431.1:n.*168T>C
XM_011522538.1:c.640-7041T>C	XP_011520840.1:n.640-7041T>C
XM_005255374.4:c.*168T>C	XP_005255431.1:n.*168T>C
NM_000303.3:c.*168T>C MANE Select	NP_000294.1:n.*168T>C