Canonical Allele Identifier: CA394697842

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8906894A>T (hg19) ; chr16:g.8813037A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8813037A>T , CM000678.2:g.8813037A>T	GRCh38
NC_000016.9:g.8906894A>T , CM000678.1:g.8906894A>T	GRCh37
NC_000016.8:g.8814395A>T	NCBI36
NG_009209.1:g.20225A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3738A>T
ENST00000682008.1:c.570A>T	ENSP00000507849.1:p.Arg190Ser
ENST00000682393.1:c.*188A>T	ENSP00000506774.1:n.*188A>T
ENST00000683094.1:c.*192A>T	ENSP00000508230.1:n.*192A>T
ENST00000683274.1:c.*110A>T	ENSP00000507262.1:n.*110A>T
ENST00000683435.1:c.*466A>T	ENSP00000508092.1:n.*466A>T
ENST00000268261.9:c.570A>T MANE Select	ENSP00000268261.4:p.Arg190Ser
ENST00000268261.8:c.570A>T	ENSP00000268261.4:p.Arg190Ser
ENST00000562318.5:c.*292A>T	ENSP00000454395.1:n.*292A>T
ENST00000564069.1:c.537A>T
ENST00000565221.5:c.*188A>T	ENSP00000457932.1:n.*188A>T
ENST00000566540.5:c.*192A>T	ENSP00000454284.1:n.*192A>T
ENST00000566604.5:c.*110A>T	ENSP00000456774.1:n.*110A>T
ENST00000566983.5:c.489A>T	ENSP00000457956.1:p.Arg163Ser
ENST00000567697.1:n.3738A>T
ENST00000569958.5:c.297A>T	ENSP00000456302.1:p.Arg99Ser
ENST00000570076.5:c.*28A>T	ENSP00000456961.1:n.*28A>T
ENST00000570134.5:c.*192A>T	ENSP00000456275.1:n.*192A>T
NM_000303.2:c.570A>T	NP_000294.1:p.Arg190Ser
XM_005255372.3:c.570A>T	XP_005255429.1:p.Arg190Ser
XM_005255373.3:c.321A>T	XP_005255430.1:p.Arg107Ser
XM_005255374.3:c.321A>T	XP_005255431.1:p.Arg107Ser
XM_011522538.1:c.570A>T	XP_011520840.1:p.Arg190Ser
XM_011522539.1:c.195A>T	XP_011520841.1:p.Arg65Ser
XM_005255374.4:c.321A>T	XP_005255431.1:p.Arg107Ser
NM_000303.3:c.570A>T MANE Select	NP_000294.1:p.Arg190Ser