Canonical Allele Identifier: CA394696372

Gene: PMM2

Linked Data

• dbSNP Id: rs1368978346
• gnomAD v2: 16-8900264-G-C
• gnomAD v4: 16-8806407-G-C
• MyVariant Identifiers: chr16:g.8900264G>C (hg19) ; chr16:g.8806407G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806407G>C , CM000678.2:g.8806407G>C	GRCh38
NC_000016.9:g.8900264G>C , CM000678.1:g.8900264G>C	GRCh37
NC_000016.8:g.8807765G>C	NCBI36
NG_009209.1:g.13595G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.347G>C	ENSP00000507849.1:p.Arg116Thr
ENST00000682393.1:c.178+4497G>C	ENSP00000506774.1:n.178+4497G>C
ENST00000683094.1:c.*69G>C	ENSP00000508230.1:n.*69G>C
ENST00000683274.1:c.347G>C	ENSP00000507262.1:p.Arg116Thr
ENST00000683435.1:c.*343G>C	ENSP00000508092.1:n.*343G>C
ENST00000268261.9:c.347G>C MANE Select	ENSP00000268261.4:p.Arg116Thr
ENST00000268261.8:c.347G>C	ENSP00000268261.4:p.Arg116Thr
ENST00000562318.5:c.*69G>C	ENSP00000454395.1:n.*69G>C
ENST00000562448.1:n.311G>C
ENST00000564030.5:n.409G>C
ENST00000564069.1:c.318G>C
ENST00000565221.5:c.178+4497G>C	ENSP00000457932.1:n.178+4497G>C
ENST00000565896.5:c.*145+4018G>C	ENSP00000456024.1:n.*145+4018G>C
ENST00000566540.5:c.*69G>C	ENSP00000454284.1:n.*69G>C
ENST00000566604.5:c.347G>C	ENSP00000456774.1:p.Arg116Thr
ENST00000566983.5:c.266G>C	ENSP00000457956.1:p.Arg89Thr
ENST00000568602.5:c.*200G>C	ENSP00000455066.1:n.*200G>C
ENST00000569958.5:c.178+4497G>C	ENSP00000456302.1:n.178+4497G>C
ENST00000570076.5:c.178+4497G>C	ENSP00000456961.1:n.178+4497G>C
ENST00000570134.5:c.*69G>C	ENSP00000456275.1:n.*69G>C
NM_000303.2:c.347G>C	NP_000294.1:p.Arg116Thr
XM_005255372.3:c.347G>C	XP_005255429.1:p.Arg116Thr
XM_005255373.3:c.98G>C	XP_005255430.1:p.Arg33Thr
XM_005255374.3:c.98G>C	XP_005255431.1:p.Arg33Thr
XM_011522538.1:c.347G>C	XP_011520840.1:p.Arg116Thr
XM_011522539.1:c.-29+4497G>C	XP_011520841.1:n.-29+4497G>C
XM_005255374.4:c.98G>C	XP_005255431.1:p.Arg33Thr
NM_000303.3:c.347G>C MANE Select	NP_000294.1:p.Arg116Thr