Canonical Allele Identifier: CA2206128220
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797819G= , CM000678.2:g.8797819G= GRCh38
NC_000016.9:g.8891676G= , CM000678.1:g.8891676G= GRCh37
NC_000016.8:g.8799177G= NCBI36
NG_009209.1:g.5007G=
NG_033146.1:g.4830C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-64G= ENSP00000507849.1:n.-64G=
ENST00000683435.1:c.-64G= ENSP00000508092.1:n.-64G=
ENST00000268261.8:c.-64G= ENSP00000268261.4:n.-64G=
ENST00000566983.5:c.-15-3980G= ENSP00000457956.1:n.-15-3980G=
NM_000303.2:c.-64G= NP_000294.1:n.-64G=
XM_005255373.3:c.-236G= XP_005255430.1:n.-236G=
XM_005255374.3:c.-236G= XP_005255431.1:n.-236G=
XM_005255374.4:c.-236G= XP_005255431.1:n.-236G=