Canonical Allele Identifier: CA220619
Gene: PMM2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7723
ClinVar RCV Id: RCV000008162
dbSNP Id: rs80338700

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8806398C>T , CM000678.2:g.8806398C>T GRCh38
NC_000016.9:g.8900255C>T , CM000678.1:g.8900255C>T GRCh37
NC_000016.8:g.8807756C>T NCBI36
NG_009209.1:g.13586C>T

Transcript Alleles

HGVS Amino-acid change
NM_000303.2:c.338C>T VV NP_000294.1:p.Pro113Leu
XM_005255372.3:c.338C>T XP_005255429.1:p.Pro113Leu
XM_005255373.3:c.89C>T XP_005255430.1:p.Pro30Leu
XM_005255374.3:c.89C>T XP_005255431.1:p.Pro30Leu
XM_011522538.1:c.338C>T XP_011520840.1:p.Pro113Leu
XM_011522539.1:c.-29+4488C>T XP_011520841.1:p.=
XM_005255374.4:c.89C>T XP_005255431.1:p.Pro30Leu
NM_000303.3:c.338C>T VV MANE Preferred NP_000294.1:p.Pro113Leu
ENST00000268261.8:c.338C>T ENSP00000268261.4:p.Pro113Leu
ENST00000562318.5:c.*60C>T ENSP00000454395.1:p.=
ENST00000562448.1:n.302C>T
ENST00000564030.5:n.400C>T
ENST00000564069.1:n.309C>T
ENST00000565221.5:c.178+4488C>T ENSP00000457932.1:p.=
ENST00000565896.5:c.*145+4009C>T ENSP00000456024.1:p.=
ENST00000566540.5:c.*60C>T ENSP00000454284.1:p.=
ENST00000566604.5:c.338C>T ENSP00000456774.1:p.Pro113Leu
ENST00000566983.5:c.257C>T ENSP00000457956.1:p.Pro86Leu
ENST00000568602.5:c.*191C>T ENSP00000455066.1:p.=
ENST00000569958.5:c.178+4488C>T ENSP00000456302.1:p.=
ENST00000570076.5:c.178+4488C>T ENSP00000456961.1:p.=
ENST00000570134.5:c.*60C>T ENSP00000456275.1:p.=