Canonical Allele Identifier: CA394697832

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8906892A>T (hg19) ; chr16:g.8813035A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8813035A>T , CM000678.2:g.8813035A>T	GRCh38
NC_000016.9:g.8906892A>T , CM000678.1:g.8906892A>T	GRCh37
NC_000016.8:g.8814393A>T	NCBI36
NG_009209.1:g.20223A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3736A>T
ENST00000682008.1:c.568A>T	ENSP00000507849.1:p.Arg190Ter
ENST00000682393.1:c.*186A>T	ENSP00000506774.1:n.*186A>T
ENST00000683094.1:c.*190A>T	ENSP00000508230.1:n.*190A>T
ENST00000683274.1:c.*108A>T	ENSP00000507262.1:n.*108A>T
ENST00000683435.1:c.*464A>T	ENSP00000508092.1:n.*464A>T
ENST00000268261.9:c.568A>T MANE Select	ENSP00000268261.4:p.Arg190Ter
ENST00000268261.8:c.568A>T	ENSP00000268261.4:p.Arg190Ter
ENST00000562318.5:c.*290A>T	ENSP00000454395.1:n.*290A>T
ENST00000564069.1:c.535A>T
ENST00000565221.5:c.*186A>T	ENSP00000457932.1:n.*186A>T
ENST00000566540.5:c.*190A>T	ENSP00000454284.1:n.*190A>T
ENST00000566604.5:c.*108A>T	ENSP00000456774.1:n.*108A>T
ENST00000566983.5:c.487A>T	ENSP00000457956.1:p.Arg163Ter
ENST00000567697.1:n.3736A>T
ENST00000569958.5:c.295A>T	ENSP00000456302.1:p.Arg99Ter
ENST00000570076.5:c.*26A>T	ENSP00000456961.1:n.*26A>T
ENST00000570134.5:c.*190A>T	ENSP00000456275.1:n.*190A>T
NM_000303.2:c.568A>T	NP_000294.1:p.Arg190Ter
XM_005255372.3:c.568A>T	XP_005255429.1:p.Arg190Ter
XM_005255373.3:c.319A>T	XP_005255430.1:p.Arg107Ter
XM_005255374.3:c.319A>T	XP_005255431.1:p.Arg107Ter
XM_011522538.1:c.568A>T	XP_011520840.1:p.Arg190Ter
XM_011522539.1:c.193A>T	XP_011520841.1:p.Arg65Ter
XM_005255374.4:c.319A>T	XP_005255431.1:p.Arg107Ter
NM_000303.3:c.568A>T MANE Select	NP_000294.1:p.Arg190Ter