Canonical Allele Identifier: CA493489735

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847951-A-C
• MyVariant Identifiers: chr16:g.8941808A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847951A>C , CM000678.2:g.8847951A>C	GRCh38
NC_000016.9:g.8941808A>C , CM000678.1:g.8941808A>C	GRCh37
NC_000016.8:g.8849309A>C	NCBI36
NG_009209.1:g.55139A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4035A>C
ENST00000682393.1:c.*258-1418A>C	ENSP00000506774.1:n.*258-1418A>C
ENST00000683094.1:c.*262-1418A>C	ENSP00000508230.1:n.*262-1418A>C
ENST00000683274.1:c.*180-1418A>C	ENSP00000507262.1:n.*180-1418A>C
ENST00000683435.1:c.*763A>C	ENSP00000508092.1:n.*763A>C
ENST00000268261.9:c.*126A>C MANE Select	ENSP00000268261.4:n.*126A>C
ENST00000268261.8:c.*126A>C	ENSP00000268261.4:n.*126A>C
ENST00000562025.1:n.401A>C
ENST00000562318.5:c.*589A>C	ENSP00000454395.1:n.*589A>C
ENST00000565221.5:c.*485A>C	ENSP00000457932.1:n.*485A>C
ENST00000566540.5:c.*489A>C	ENSP00000454284.1:n.*489A>C
ENST00000566604.5:c.*407A>C	ENSP00000456774.1:n.*407A>C
ENST00000567697.1:n.4035A>C
ENST00000569958.5:c.*126A>C	ENSP00000456302.1:n.*126A>C
ENST00000570076.5:c.*325A>C	ENSP00000456961.1:n.*325A>C
NM_000303.2:c.*126A>C	NP_000294.1:n.*126A>C
XM_005255374.3:c.*126A>C	XP_005255431.1:n.*126A>C
XM_011522538.1:c.640-7083A>C	XP_011520840.1:n.640-7083A>C
XM_005255374.4:c.*126A>C	XP_005255431.1:n.*126A>C
NM_000303.3:c.*126A>C MANE Select	NP_000294.1:n.*126A>C