Canonical Allele Identifier: CA493489350

Gene: PMM2

Linked Data

• ClinVar Variation Id: 1528891
• ClinVar RCV Id: RCV002079833
• dbSNP Id: rs2141051463
• MyVariant Identifiers: chr16:g.8941613C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847756C>T , CM000678.2:g.8847756C>T	GRCh38
NC_000016.9:g.8941613C>T , CM000678.1:g.8941613C>T	GRCh37
NC_000016.8:g.8849114C>T	NCBI36
NG_009209.1:g.54944C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3840C>T
ENST00000682393.1:c.*258-1613C>T	ENSP00000506774.1:n.*258-1613C>T
ENST00000683094.1:c.*262-1613C>T	ENSP00000508230.1:n.*262-1613C>T
ENST00000683274.1:c.*180-1613C>T	ENSP00000507262.1:n.*180-1613C>T
ENST00000683435.1:c.*568C>T	ENSP00000508092.1:n.*568C>T
ENST00000268261.9:c.672C>T MANE Select	ENSP00000268261.4:p.Pro224=
ENST00000268261.8:c.672C>T	ENSP00000268261.4:p.Pro224=
ENST00000562025.1:n.206C>T
ENST00000562318.5:c.*394C>T	ENSP00000454395.1:n.*394C>T
ENST00000565221.5:c.*290C>T	ENSP00000457932.1:n.*290C>T
ENST00000566540.5:c.*294C>T	ENSP00000454284.1:n.*294C>T
ENST00000566604.5:c.*212C>T	ENSP00000456774.1:n.*212C>T
ENST00000566983.5:c.591C>T	ENSP00000457956.1:p.Pro197=
ENST00000567697.1:n.3840C>T
ENST00000569958.5:c.399C>T	ENSP00000456302.1:p.Pro133=
ENST00000570076.5:c.*130C>T	ENSP00000456961.1:n.*130C>T
NM_000303.2:c.672C>T	NP_000294.1:p.Pro224=
XM_005255374.3:c.423C>T	XP_005255431.1:p.Pro141=
XM_011522538.1:c.640-7278C>T	XP_011520840.1:n.640-7278C>T
XM_005255374.4:c.423C>T	XP_005255431.1:p.Pro141=
NM_000303.3:c.672C>T MANE Select	NP_000294.1:p.Pro224=