Canonical Allele Identifier: CA7893982

Gene: PMM2

Linked Data

• ClinVar Variation Id: 2062051
• ClinVar RCV Id: RCV002923483
• dbSNP Id: rs749891660
• ExAC: 16:8900153 CAAGT / C
• gnomAD v2: 16-8900153-CAAGT-C
• gnomAD v3: 16-8806296-CAAGT-C
• gnomAD v4: 16-8806296-CAAGT-C
• MyVariant Identifiers: chr16:g.8900154_8900157del (hg19) ; chr16:g.8806297_8806300del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806298_8806301del , CM000678.2:g.8806298_8806301del	GRCh38
NC_000016.9:g.8900155_8900158del , CM000678.1:g.8900155_8900158del	GRCh37
NC_000016.8:g.8807656_8807659del	NCBI36
NG_009209.1:g.13486_13489del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.256-18_256-15del	ENSP00000507849.1:n.256-18_256-15del
ENST00000682393.1:c.178+4388_178+4391del	ENSP00000506774.1:n.178+4388_178+4391del
ENST00000683094.1:c.179-18_179-15del	ENSP00000508230.1:n.179-18_179-15del
ENST00000683274.1:c.256-18_256-15del	ENSP00000507262.1:n.256-18_256-15del
ENST00000683435.1:c.*252-18_*252-15del	ENSP00000508092.1:n.*252-18_*252-15del
ENST00000268261.9:c.256-18_256-15del MANE Select	ENSP00000268261.4:n.256-18_256-15del
ENST00000268261.8:c.256-18_256-15del	ENSP00000268261.4:n.256-18_256-15del
ENST00000562318.5:c.179-18_179-15del	ENSP00000454395.1:n.179-18_179-15del
ENST00000562448.1:n.220-18_220-15del
ENST00000564030.5:n.318-18_318-15del
ENST00000564069.1:c.227-18_227-15del
ENST00000565221.5:c.178+4388_178+4391del	ENSP00000457932.1:n.178+4388_178+4391del
ENST00000565896.5:c.*145+3909_*145+3912del	ENSP00000456024.1:n.*145+3909_*145+3912de...
ENST00000566540.5:c.179-18_179-15del	ENSP00000454284.1:n.179-18_179-15del
ENST00000566604.5:c.256-18_256-15del	ENSP00000456774.1:n.256-18_256-15del
ENST00000566983.5:c.175-18_175-15del	ENSP00000457956.1:n.175-18_175-15del
ENST00000568602.5:c.*109-18_*109-15del	ENSP00000455066.1:n.*109-18_*109-15del
ENST00000569958.5:c.178+4388_178+4391del	ENSP00000456302.1:n.178+4388_178+4391del
ENST00000570076.5:c.178+4388_178+4391del	ENSP00000456961.1:n.178+4388_178+4391del
ENST00000570134.5:c.179-18_179-15del	ENSP00000456275.1:n.179-18_179-15del
NM_000303.2:c.256-18_256-15del	NP_000294.1:n.256-18_256-15del
XM_005255372.3:c.256-18_256-15del	XP_005255429.1:n.256-18_256-15del
XM_005255373.3:c.7-18_7-15del	XP_005255430.1:n.7-18_7-15del
XM_005255374.3:c.7-18_7-15del	XP_005255431.1:n.7-18_7-15del
XM_011522538.1:c.256-18_256-15del	XP_011520840.1:n.256-18_256-15del
XM_011522539.1:c.-29+4388_-29+4391del	XP_011520841.1:n.-29+4388_-29+4391del
XM_005255374.4:c.7-18_7-15del	XP_005255431.1:n.7-18_7-15del
NM_000303.3:c.256-18_256-15del MANE Select	NP_000294.1:n.256-18_256-15del