Canonical Allele Identifier: CA1703605919

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44065297C= , CM000669.2:g.44065297C= GRCh38
NC_000007.13:g.44104896C= , CM000669.1:g.44104896C= GRCh37
NC_000007.12:g.44071421C= NCBI36
NG_013016.1:g.5291G=

Transcript Alleles

HGVS Amino-acid Change
NM_000290.4:c.233G= (PGAM2) MANE Select NP_000281.2:p.Trp78=
NM_001014436.3:c.*4381C= (DBNL) MANE Select NP_001014436.1:n.*4381C=
ENST00000297283.4:c.233G= (PGAM2) MANE Select ENSP00000297283.3:p.Trp78=
ENST00000448521.6:c.*4381C= (DBNL) MANE Select ENSP00000411701.1:n.*4381C=
NM_000290.3:c.233G= (PGAM2) NP_000281.2:p.Trp78=
NM_001122956.2:c.*4381C= (DBNL) NP_001116428.1:n.*4381C=
NM_001284313.2:c.*4381C= (DBNL) NP_001271242.1:n.*4381C=
NM_001284315.2:c.*4381C= (DBNL) NP_001271244.1:n.*4381C=
NM_001362723.2:c.*4381C= (DBNL) NP_001349652.1:n.*4381C=
NM_014063.7:c.*4381C= (DBNL) NP_054782.2:n.*4381C=
ENST00000297283.3:c.233G= (PGAM2) ENSP00000297283.3:p.Trp78=
ENST00000432854.5:c.5459C= (DBNL)
XM_011515426.1:c.233G= (PGAM2) XP_011513728.1:p.Trp78=