Canonical Allele Identifier: CA394696493

Gene: PMM2

Linked Data

• gnomAD v4: 16-8811079-G-T
• MyVariant Identifiers: chr16:g.8904936G>T (hg19) ; chr16:g.8811079G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811079G>T , CM000678.2:g.8811079G>T	GRCh38
NC_000016.9:g.8904936G>T , CM000678.1:g.8904936G>T	GRCh37
NC_000016.8:g.8812437G>T	NCBI36
NG_009209.1:g.18267G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3516G>T
ENST00000682008.1:c.348G>T	ENSP00000507849.1:p.Arg116Ser
ENST00000682393.1:c.179G>T	ENSP00000506774.1:p.Gly60Val
ENST00000683094.1:c.*70-559G>T	ENSP00000508230.1:n.*70-559G>T
ENST00000683274.1:c.348-559G>T	ENSP00000507262.1:n.348-559G>T
ENST00000683435.1:c.*344-559G>T	ENSP00000508092.1:n.*344-559G>T
ENST00000268261.9:c.348G>T MANE Select	ENSP00000268261.4:p.Arg116Ser
ENST00000268261.8:c.348G>T	ENSP00000268261.4:p.Arg116Ser
ENST00000562318.5:c.*70G>T	ENSP00000454395.1:n.*70G>T
ENST00000564069.1:c.319G>T
ENST00000565221.5:c.179G>T	ENSP00000457932.1:p.Gly60Val
ENST00000565896.5:c.*146G>T	ENSP00000456024.1:n.*146G>T
ENST00000566540.5:c.*70-559G>T	ENSP00000454284.1:n.*70-559G>T
ENST00000566604.5:c.348-559G>T	ENSP00000456774.1:n.348-559G>T
ENST00000566983.5:c.267G>T	ENSP00000457956.1:p.Arg89Ser
ENST00000567697.1:n.3516G>T
ENST00000568602.5:c.*201G>T	ENSP00000455066.1:n.*201G>T
ENST00000569958.5:c.179-563G>T	ENSP00000456302.1:n.179-563G>T
ENST00000570076.5:c.179-559G>T	ENSP00000456961.1:n.179-559G>T
ENST00000570134.5:c.*70-559G>T	ENSP00000456275.1:n.*70-559G>T
NM_000303.2:c.348G>T	NP_000294.1:p.Arg116Ser
XM_005255372.3:c.348G>T	XP_005255429.1:p.Arg116Ser
XM_005255373.3:c.99G>T	XP_005255430.1:p.Arg33Ser
XM_005255374.3:c.99G>T	XP_005255431.1:p.Arg33Ser
XM_011522538.1:c.348G>T	XP_011520840.1:p.Arg116Ser
XM_011522539.1:c.-28G>T	XP_011520841.1:n.-28G>T
XM_005255374.4:c.99G>T	XP_005255431.1:p.Arg33Ser
NM_000303.3:c.348G>T MANE Select	NP_000294.1:p.Arg116Ser