Canonical Allele Identifier: CA1703605815

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44065262G= , CM000669.2:g.44065262G= GRCh38
NC_000007.13:g.44104861G= , CM000669.1:g.44104861G= GRCh37
NC_000007.12:g.44071386G= NCBI36
NG_013016.1:g.5326C=

Transcript Alleles

HGVS Amino-acid Change
NM_000290.4:c.268C= (PGAM2) MANE Select NP_000281.2:p.Arg90=
NM_001014436.3:c.*4346G= (DBNL) MANE Select NP_001014436.1:n.*4346G=
ENST00000297283.4:c.268C= (PGAM2) MANE Select ENSP00000297283.3:p.Arg90=
ENST00000448521.6:c.*4346G= (DBNL) MANE Select ENSP00000411701.1:n.*4346G=
NM_000290.3:c.268C= (PGAM2) NP_000281.2:p.Arg90=
NM_001122956.2:c.*4346G= (DBNL) NP_001116428.1:n.*4346G=
NM_001284313.2:c.*4346G= (DBNL) NP_001271242.1:n.*4346G=
NM_001284315.2:c.*4346G= (DBNL) NP_001271244.1:n.*4346G=
NM_001362723.2:c.*4346G= (DBNL) NP_001349652.1:n.*4346G=
NM_014063.7:c.*4346G= (DBNL) NP_054782.2:n.*4346G=
ENST00000297283.3:c.268C= (PGAM2) ENSP00000297283.3:p.Arg90=
ENST00000432854.5:c.5424G= (DBNL)
XM_011515426.1:c.268C= (PGAM2) XP_011513728.1:p.Arg90=