Canonical Allele Identifier: CA7893990

Gene: PMM2

Linked Data

• ClinVar Variation Id: 2246598
• ClinVar RCV Id: RCV002743230 ; RCV003108176
• dbSNP Id: rs376597290
• ExAC: 16:8900181 A / C
• gnomAD v2: 16-8900181-A-C
• gnomAD v3: 16-8806324-A-C
• gnomAD v4: 16-8806324-A-C
• MyVariant Identifiers: chr16:g.8900181A>C (hg19) ; chr16:g.8806324A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806324A>C , CM000678.2:g.8806324A>C	GRCh38
NC_000016.9:g.8900181A>C , CM000678.1:g.8900181A>C	GRCh37
NC_000016.8:g.8807682A>C	NCBI36
NG_009209.1:g.13512A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.264A>C	ENSP00000507849.1:p.Gln88His
ENST00000682393.1:c.178+4414A>C	ENSP00000506774.1:n.178+4414A>C
ENST00000683094.1:c.187A>C	ENSP00000508230.1:p.Lys63Gln
ENST00000683274.1:c.264A>C	ENSP00000507262.1:p.Gln88His
ENST00000683435.1:c.*260A>C	ENSP00000508092.1:n.*260A>C
ENST00000268261.9:c.264A>C MANE Select	ENSP00000268261.4:p.Gln88His
ENST00000268261.8:c.264A>C	ENSP00000268261.4:p.Gln88His
ENST00000562318.5:c.187A>C	ENSP00000454395.1:p.Lys63Gln
ENST00000562448.1:n.228A>C
ENST00000564030.5:n.326A>C
ENST00000564069.1:c.235A>C
ENST00000565221.5:c.178+4414A>C	ENSP00000457932.1:n.178+4414A>C
ENST00000565896.5:c.*145+3935A>C	ENSP00000456024.1:n.*145+3935A>C
ENST00000566540.5:c.187A>C	ENSP00000454284.1:p.Lys63Gln
ENST00000566604.5:c.264A>C	ENSP00000456774.1:p.Gln88His
ENST00000566983.5:c.183A>C	ENSP00000457956.1:p.Gln61His
ENST00000568602.5:c.*117A>C	ENSP00000455066.1:n.*117A>C
ENST00000569958.5:c.178+4414A>C	ENSP00000456302.1:n.178+4414A>C
ENST00000570076.5:c.178+4414A>C	ENSP00000456961.1:n.178+4414A>C
ENST00000570134.5:c.187A>C	ENSP00000456275.1:p.Lys63Gln
NM_000303.2:c.264A>C	NP_000294.1:p.Gln88His
XM_005255372.3:c.264A>C	XP_005255429.1:p.Gln88His
XM_005255373.3:c.15A>C	XP_005255430.1:p.Gln5His
XM_005255374.3:c.15A>C	XP_005255431.1:p.Gln5His
XM_011522538.1:c.264A>C	XP_011520840.1:p.Gln88His
XM_011522539.1:c.-29+4414A>C	XP_011520841.1:n.-29+4414A>C
XM_005255374.4:c.15A>C	XP_005255431.1:p.Gln5His
NM_000303.3:c.264A>C MANE Select	NP_000294.1:p.Gln88His