Canonical Allele Identifier: CA7894086

Gene: PMM2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811648T>C , CM000678.2:g.8811648T>C	GRCh38
NC_000016.9:g.8905505T>C , CM000678.1:g.8905505T>C	GRCh37
NC_000016.8:g.8813006T>C	NCBI36
NG_009209.1:g.18836T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3626T>C
ENST00000682008.1:c.458T>C	ENSP00000507849.1:p.Ile153Thr
ENST00000682393.1:c.*76T>C	ENSP00000506774.1:n.*76T>C
ENST00000683094.1:c.*80T>C	ENSP00000508230.1:n.*80T>C
ENST00000683274.1:c.358T>C	ENSP00000507262.1:p.Ter120Gln
ENST00000683435.1:c.*354T>C	ENSP00000508092.1:n.*354T>C
ENST00000268261.9:c.458T>C MANE Select	ENSP00000268261.4:p.Ile153Thr
ENST00000268261.8:c.458T>C	ENSP00000268261.4:p.Ile153Thr
ENST00000562318.5:c.*180T>C	ENSP00000454395.1:n.*180T>C
ENST00000564069.1:c.425T>C
ENST00000565221.5:c.*76T>C	ENSP00000457932.1:n.*76T>C
ENST00000565896.5:c.*256T>C	ENSP00000456024.1:n.*256T>C
ENST00000566540.5:c.*80T>C	ENSP00000454284.1:n.*80T>C
ENST00000566604.5:c.358T>C	ENSP00000456774.1:p.Ter120Gln
ENST00000566983.5:c.377T>C	ENSP00000457956.1:p.Ile126Thr
ENST00000567697.1:n.3626T>C
ENST00000569958.5:c.185T>C	ENSP00000456302.1:p.Ile62Thr
ENST00000570076.5:c.189T>C	ENSP00000456961.1:p.Tyr63=
ENST00000570134.5:c.*80T>C	ENSP00000456275.1:n.*80T>C
NM_000303.2:c.458T>C	NP_000294.1:p.Ile153Thr
XM_005255372.3:c.458T>C	XP_005255429.1:p.Ile153Thr
XM_005255373.3:c.209T>C	XP_005255430.1:p.Ile70Thr
XM_005255374.3:c.209T>C	XP_005255431.1:p.Ile70Thr
XM_011522538.1:c.458T>C	XP_011520840.1:p.Ile153Thr
XM_011522539.1:c.83T>C	XP_011520841.1:p.Ile28Thr
XM_005255374.4:c.209T>C	XP_005255431.1:p.Ile70Thr
NM_000303.3:c.458T>C MANE Select	NP_000294.1:p.Ile153Thr