Canonical Allele Identifier: CA493489770

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847963-T-C
• MyVariant Identifiers: chr16:g.8941820T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847963T>C , CM000678.2:g.8847963T>C	GRCh38
NC_000016.9:g.8941820T>C , CM000678.1:g.8941820T>C	GRCh37
NC_000016.8:g.8849321T>C	NCBI36
NG_009209.1:g.55151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4047T>C
ENST00000682393.1:c.*258-1406T>C	ENSP00000506774.1:n.*258-1406T>C
ENST00000683094.1:c.*262-1406T>C	ENSP00000508230.1:n.*262-1406T>C
ENST00000683274.1:c.*180-1406T>C	ENSP00000507262.1:n.*180-1406T>C
ENST00000683435.1:c.*775T>C	ENSP00000508092.1:n.*775T>C
ENST00000268261.9:c.*138T>C MANE Select	ENSP00000268261.4:n.*138T>C
ENST00000268261.8:c.*138T>C	ENSP00000268261.4:n.*138T>C
ENST00000562025.1:n.413T>C
ENST00000562318.5:c.*601T>C	ENSP00000454395.1:n.*601T>C
ENST00000565221.5:c.*497T>C	ENSP00000457932.1:n.*497T>C
ENST00000566540.5:c.*501T>C	ENSP00000454284.1:n.*501T>C
ENST00000566604.5:c.*419T>C	ENSP00000456774.1:n.*419T>C
ENST00000567697.1:n.4047T>C
ENST00000569958.5:c.*138T>C	ENSP00000456302.1:n.*138T>C
ENST00000570076.5:c.*337T>C	ENSP00000456961.1:n.*337T>C
NM_000303.2:c.*138T>C	NP_000294.1:n.*138T>C
XM_005255374.3:c.*138T>C	XP_005255431.1:n.*138T>C
XM_011522538.1:c.640-7071T>C	XP_011520840.1:n.640-7071T>C
XM_005255374.4:c.*138T>C	XP_005255431.1:n.*138T>C
NM_000303.3:c.*138T>C MANE Select	NP_000294.1:n.*138T>C