Canonical Allele Identifier: CA493511742

Gene: PMM2

Linked Data

• COSMIC: COSM1243522
• MyVariant Identifiers: chr16:g.8900202A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806345A>G , CM000678.2:g.8806345A>G	GRCh38
NC_000016.9:g.8900202A>G , CM000678.1:g.8900202A>G	GRCh37
NC_000016.8:g.8807703A>G	NCBI36
NG_009209.1:g.13533A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.285A>G	ENSP00000507849.1:p.Leu95=
ENST00000682393.1:c.178+4435A>G	ENSP00000506774.1:n.178+4435A>G
ENST00000683094.1:c.*7A>G	ENSP00000508230.1:n.*7A>G
ENST00000683274.1:c.285A>G	ENSP00000507262.1:p.Leu95=
ENST00000683435.1:c.*281A>G	ENSP00000508092.1:n.*281A>G
ENST00000268261.9:c.285A>G MANE Select	ENSP00000268261.4:p.Leu95=
ENST00000268261.8:c.285A>G	ENSP00000268261.4:p.Leu95=
ENST00000562318.5:c.*7A>G	ENSP00000454395.1:n.*7A>G
ENST00000562448.1:n.249A>G
ENST00000564030.5:n.347A>G
ENST00000564069.1:c.256A>G
ENST00000565221.5:c.178+4435A>G	ENSP00000457932.1:n.178+4435A>G
ENST00000565896.5:c.*145+3956A>G	ENSP00000456024.1:n.*145+3956A>G
ENST00000566540.5:c.*7A>G	ENSP00000454284.1:n.*7A>G
ENST00000566604.5:c.285A>G	ENSP00000456774.1:p.Leu95=
ENST00000566983.5:c.204A>G	ENSP00000457956.1:p.Leu68=
ENST00000568602.5:c.*138A>G	ENSP00000455066.1:n.*138A>G
ENST00000569958.5:c.178+4435A>G	ENSP00000456302.1:n.178+4435A>G
ENST00000570076.5:c.178+4435A>G	ENSP00000456961.1:n.178+4435A>G
ENST00000570134.5:c.*7A>G	ENSP00000456275.1:n.*7A>G
NM_000303.2:c.285A>G	NP_000294.1:p.Leu95=
XM_005255372.3:c.285A>G	XP_005255429.1:p.Leu95=
XM_005255373.3:c.36A>G	XP_005255430.1:p.Leu12=
XM_005255374.3:c.36A>G	XP_005255431.1:p.Leu12=
XM_011522538.1:c.285A>G	XP_011520840.1:p.Leu95=
XM_011522539.1:c.-29+4435A>G	XP_011520841.1:n.-29+4435A>G
XM_005255374.4:c.36A>G	XP_005255431.1:p.Leu12=
NM_000303.3:c.285A>G MANE Select	NP_000294.1:p.Leu95=