Canonical Allele Identifier: CA2206158117

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847823T= , CM000678.2:g.8847823T=	GRCh38
NC_000016.9:g.8941680T= , CM000678.1:g.8941680T=	GRCh37
NC_000016.8:g.8849181T=	NCBI36
NG_009209.1:g.55011T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3907T=
ENST00000682393.1:c.*258-1546T=	ENSP00000506774.1:n.*258-1546T=
ENST00000683094.1:c.*262-1546T=	ENSP00000508230.1:n.*262-1546T=
ENST00000683274.1:c.*180-1546T=	ENSP00000507262.1:n.*180-1546T=
ENST00000683435.1:c.*635T=	ENSP00000508092.1:n.*635T=
ENST00000268261.9:c.739T= MANE Select	ENSP00000268261.4:p.Ter247=
ENST00000268261.8:c.739T=	ENSP00000268261.4:p.Ter247=
ENST00000562025.1:n.273T=
ENST00000562318.5:c.*461T=	ENSP00000454395.1:n.*461T=
ENST00000565221.5:c.*357T=	ENSP00000457932.1:n.*357T=
ENST00000566540.5:c.*361T=	ENSP00000454284.1:n.*361T=
ENST00000566604.5:c.*279T=	ENSP00000456774.1:n.*279T=
ENST00000566983.5:c.658T=	ENSP00000457956.1:p.Ter220=
ENST00000567697.1:n.3907T=
ENST00000569958.5:c.466T=	ENSP00000456302.1:p.Ter156=
ENST00000570076.5:c.*197T=	ENSP00000456961.1:n.*197T=
NM_000303.2:c.739T=	NP_000294.1:p.Ter247=
XM_005255374.3:c.490T=	XP_005255431.1:p.Ter164=
XM_011522538.1:c.640-7211T=	XP_011520840.1:n.640-7211T=
XM_005255374.4:c.490T=	XP_005255431.1:p.Ter164=
NM_000303.3:c.739T= MANE Select	NP_000294.1:p.Ter247=