Canonical Allele Identifier: CA394689532

Gene: PMM2

Linked Data

• ClinVar Variation Id: 639185
• ClinVar RCV Id: RCV000791923 ; RCV001091538
• dbSNP Id: rs558826439
• gnomAD v4: 16-8847766-G-T
• MyVariant Identifiers: chr16:g.8941623G>T (hg19) ; chr16:g.8847766G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847766G>T , CM000678.2:g.8847766G>T	GRCh38
NC_000016.9:g.8941623G>T , CM000678.1:g.8941623G>T	GRCh37
NC_000016.8:g.8849124G>T	NCBI36
NG_009209.1:g.54954G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3850G>T
ENST00000682393.1:c.*258-1603G>T	ENSP00000506774.1:n.*258-1603G>T
ENST00000683094.1:c.*262-1603G>T	ENSP00000508230.1:n.*262-1603G>T
ENST00000683274.1:c.*180-1603G>T	ENSP00000507262.1:n.*180-1603G>T
ENST00000683435.1:c.*578G>T	ENSP00000508092.1:n.*578G>T
ENST00000268261.9:c.682G>T MANE Select	ENSP00000268261.4:p.Gly228Cys
ENST00000268261.8:c.682G>T	ENSP00000268261.4:p.Gly228Cys
ENST00000562025.1:n.216G>T
ENST00000562318.5:c.*404G>T	ENSP00000454395.1:n.*404G>T
ENST00000565221.5:c.*300G>T	ENSP00000457932.1:n.*300G>T
ENST00000566540.5:c.*304G>T	ENSP00000454284.1:n.*304G>T
ENST00000566604.5:c.*222G>T	ENSP00000456774.1:n.*222G>T
ENST00000566983.5:c.601G>T	ENSP00000457956.1:p.Gly201Cys
ENST00000567697.1:n.3850G>T
ENST00000569958.5:c.409G>T	ENSP00000456302.1:p.Gly137Cys
ENST00000570076.5:c.*140G>T	ENSP00000456961.1:n.*140G>T
NM_000303.2:c.682G>T	NP_000294.1:p.Gly228Cys
XM_005255374.3:c.433G>T	XP_005255431.1:p.Gly145Cys
XM_011522538.1:c.640-7268G>T	XP_011520840.1:n.640-7268G>T
XM_005255374.4:c.433G>T	XP_005255431.1:p.Gly145Cys
NM_000303.3:c.682G>T MANE Select	NP_000294.1:p.Gly228Cys