Canonical Allele Identifier: CA394696561

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8904968T>C (hg19) ; chr16:g.8811111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811111T>C , CM000678.2:g.8811111T>C	GRCh38
NC_000016.9:g.8904968T>C , CM000678.1:g.8904968T>C	GRCh37
NC_000016.8:g.8812469T>C	NCBI36
NG_009209.1:g.18299T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3548T>C
ENST00000682008.1:c.380T>C	ENSP00000507849.1:p.Leu127Ser
ENST00000682393.1:c.211T>C	ENSP00000506774.1:p.Ter71Gln
ENST00000683094.1:c.*70-527T>C	ENSP00000508230.1:n.*70-527T>C
ENST00000683274.1:c.348-527T>C	ENSP00000507262.1:n.348-527T>C
ENST00000683435.1:c.*344-527T>C	ENSP00000508092.1:n.*344-527T>C
ENST00000268261.9:c.380T>C MANE Select	ENSP00000268261.4:p.Leu127Ser
ENST00000268261.8:c.380T>C	ENSP00000268261.4:p.Leu127Ser
ENST00000562318.5:c.*102T>C	ENSP00000454395.1:n.*102T>C
ENST00000564069.1:c.351T>C
ENST00000565221.5:c.211T>C	ENSP00000457932.1:p.Ter71Gln
ENST00000565896.5:c.*178T>C	ENSP00000456024.1:n.*178T>C
ENST00000566540.5:c.*70-527T>C	ENSP00000454284.1:n.*70-527T>C
ENST00000566604.5:c.348-527T>C	ENSP00000456774.1:n.348-527T>C
ENST00000566983.5:c.299T>C	ENSP00000457956.1:p.Leu100Ser
ENST00000567697.1:n.3548T>C
ENST00000568602.5:c.*233T>C	ENSP00000455066.1:n.*233T>C
ENST00000569958.5:c.179-531T>C	ENSP00000456302.1:n.179-531T>C
ENST00000570076.5:c.179-527T>C	ENSP00000456961.1:n.179-527T>C
ENST00000570134.5:c.*70-527T>C	ENSP00000456275.1:n.*70-527T>C
NM_000303.2:c.380T>C	NP_000294.1:p.Leu127Ser
XM_005255372.3:c.380T>C	XP_005255429.1:p.Leu127Ser
XM_005255373.3:c.131T>C	XP_005255430.1:p.Leu44Ser
XM_005255374.3:c.131T>C	XP_005255431.1:p.Leu44Ser
XM_011522538.1:c.380T>C	XP_011520840.1:p.Leu127Ser
XM_011522539.1:c.5T>C	XP_011520841.1:p.Leu2Ser
XM_005255374.4:c.131T>C	XP_005255431.1:p.Leu44Ser
NM_000303.3:c.380T>C MANE Select	NP_000294.1:p.Leu127Ser