Canonical Allele Identifier: CA7893996

Gene: PMM2

Linked Data

• dbSNP Id: rs144365013
• ExAC: 16:8900224 T / C
• gnomAD v2: 16-8900224-T-C
• gnomAD v4: 16-8806367-T-C
• MyVariant Identifiers: chr16:g.8900224T>C (hg19) ; chr16:g.8806367T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806367T>C , CM000678.2:g.8806367T>C	GRCh38
NC_000016.9:g.8900224T>C , CM000678.1:g.8900224T>C	GRCh37
NC_000016.8:g.8807725T>C	NCBI36
NG_009209.1:g.13555T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.307T>C	ENSP00000507849.1:p.Cys103Arg
ENST00000682393.1:c.178+4457T>C	ENSP00000506774.1:n.178+4457T>C
ENST00000683094.1:c.*29T>C	ENSP00000508230.1:n.*29T>C
ENST00000683274.1:c.307T>C	ENSP00000507262.1:p.Cys103Arg
ENST00000683435.1:c.*303T>C	ENSP00000508092.1:n.*303T>C
ENST00000268261.9:c.307T>C MANE Select	ENSP00000268261.4:p.Cys103Arg
ENST00000268261.8:c.307T>C	ENSP00000268261.4:p.Cys103Arg
ENST00000562318.5:c.*29T>C	ENSP00000454395.1:n.*29T>C
ENST00000562448.1:n.271T>C
ENST00000564030.5:n.369T>C
ENST00000564069.1:c.278T>C
ENST00000565221.5:c.178+4457T>C	ENSP00000457932.1:n.178+4457T>C
ENST00000565896.5:c.*145+3978T>C	ENSP00000456024.1:n.*145+3978T>C
ENST00000566540.5:c.*29T>C	ENSP00000454284.1:n.*29T>C
ENST00000566604.5:c.307T>C	ENSP00000456774.1:p.Cys103Arg
ENST00000566983.5:c.226T>C	ENSP00000457956.1:p.Cys76Arg
ENST00000568602.5:c.*160T>C	ENSP00000455066.1:n.*160T>C
ENST00000569958.5:c.178+4457T>C	ENSP00000456302.1:n.178+4457T>C
ENST00000570076.5:c.178+4457T>C	ENSP00000456961.1:n.178+4457T>C
ENST00000570134.5:c.*29T>C	ENSP00000456275.1:n.*29T>C
NM_000303.2:c.307T>C	NP_000294.1:p.Cys103Arg
XM_005255372.3:c.307T>C	XP_005255429.1:p.Cys103Arg
XM_005255373.3:c.58T>C	XP_005255430.1:p.Cys20Arg
XM_005255374.3:c.58T>C	XP_005255431.1:p.Cys20Arg
XM_011522538.1:c.307T>C	XP_011520840.1:p.Cys103Arg
XM_011522539.1:c.-29+4457T>C	XP_011520841.1:n.-29+4457T>C
XM_005255374.4:c.58T>C	XP_005255431.1:p.Cys20Arg
NM_000303.3:c.307T>C MANE Select	NP_000294.1:p.Cys103Arg