Canonical Allele Identifier: CA1703602919

Linked Data

dbSNP Id: rs2096151550

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44062738G>A , CM000669.2:g.44062738G>A GRCh38
NC_000007.13:g.44102337G>A , CM000669.1:g.44102337G>A GRCh37
NC_000007.12:g.44068862G>A NCBI36
NG_013016.1:g.7850C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297283.4:c.*26C>T (PGAM2) MANE Select ENSP00000297283.3:n.*26C>T
ENST00000448521.6:c.*1822G>A (DBNL) MANE Select ENSP00000411701.1:n.*1822G>A
ENST00000297283.3:c.*26C>T (PGAM2) ENSP00000297283.3:n.*26C>T
ENST00000432854.5:c.2900G>A (DBNL)
NM_000290.3:c.*26C>T (PGAM2) NP_000281.2:n.*26C>T
NM_000290.4:c.*26C>T (PGAM2) MANE Select NP_000281.2:n.*26C>T
NM_001014436.3:c.*1822G>A (DBNL) MANE Select NP_001014436.1:n.*1822G>A
NM_001122956.2:c.*1822G>A (DBNL) NP_001116428.1:n.*1822G>A
NM_001284313.2:c.*1822G>A (DBNL) NP_001271242.1:n.*1822G>A
NM_001362723.2:c.*1822G>A (DBNL) NP_001349652.1:n.*1822G>A
NM_014063.7:c.*1822G>A (DBNL) NP_054782.2:n.*1822G>A
NM_001284315.2:c.*1822G>A (DBNL) NP_001271244.1:n.*1822G>A