Canonical Allele Identifier: CA7893984

Gene: PMM2

Linked Data

• ClinVar Variation Id: 794359
• ClinVar RCV Id: RCV000977608
• dbSNP Id: rs756647792
• ExAC: 16:8900163 C / T
• gnomAD v2: 16-8900163-C-T
• gnomAD v3: 16-8806306-C-T
• gnomAD v4: 16-8806306-C-T
• MyVariant Identifiers: chr16:g.8900163C>T (hg19) ; chr16:g.8806306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806306C>T , CM000678.2:g.8806306C>T	GRCh38
NC_000016.9:g.8900163C>T , CM000678.1:g.8900163C>T	GRCh37
NC_000016.8:g.8807664C>T	NCBI36
NG_009209.1:g.13494C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.256-10C>T	ENSP00000507849.1:n.256-10C>T
ENST00000682393.1:c.178+4396C>T	ENSP00000506774.1:n.178+4396C>T
ENST00000683094.1:c.179-10C>T	ENSP00000508230.1:n.179-10C>T
ENST00000683274.1:c.256-10C>T	ENSP00000507262.1:n.256-10C>T
ENST00000683435.1:c.*252-10C>T	ENSP00000508092.1:n.*252-10C>T
ENST00000268261.9:c.256-10C>T MANE Select	ENSP00000268261.4:n.256-10C>T
ENST00000268261.8:c.256-10C>T	ENSP00000268261.4:n.256-10C>T
ENST00000562318.5:c.179-10C>T	ENSP00000454395.1:n.179-10C>T
ENST00000562448.1:n.220-10C>T
ENST00000564030.5:n.318-10C>T
ENST00000564069.1:c.227-10C>T
ENST00000565221.5:c.178+4396C>T	ENSP00000457932.1:n.178+4396C>T
ENST00000565896.5:c.*145+3917C>T	ENSP00000456024.1:n.*145+3917C>T
ENST00000566540.5:c.179-10C>T	ENSP00000454284.1:n.179-10C>T
ENST00000566604.5:c.256-10C>T	ENSP00000456774.1:n.256-10C>T
ENST00000566983.5:c.175-10C>T	ENSP00000457956.1:n.175-10C>T
ENST00000568602.5:c.*109-10C>T	ENSP00000455066.1:n.*109-10C>T
ENST00000569958.5:c.178+4396C>T	ENSP00000456302.1:n.178+4396C>T
ENST00000570076.5:c.178+4396C>T	ENSP00000456961.1:n.178+4396C>T
ENST00000570134.5:c.179-10C>T	ENSP00000456275.1:n.179-10C>T
NM_000303.2:c.256-10C>T	NP_000294.1:n.256-10C>T
XM_005255372.3:c.256-10C>T	XP_005255429.1:n.256-10C>T
XM_005255373.3:c.7-10C>T	XP_005255430.1:n.7-10C>T
XM_005255374.3:c.7-10C>T	XP_005255431.1:n.7-10C>T
XM_011522538.1:c.256-10C>T	XP_011520840.1:n.256-10C>T
XM_011522539.1:c.-29+4396C>T	XP_011520841.1:n.-29+4396C>T
XM_005255374.4:c.7-10C>T	XP_005255431.1:n.7-10C>T
NM_000303.3:c.256-10C>T MANE Select	NP_000294.1:n.256-10C>T