Canonical Allele Identifier: CA2714142774

Gene: PGAM2 DBNL

Linked Data

• dbSNP Id: rs773984693

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44062730T>G , CM000669.2:g.44062730T>G	GRCh38
NC_000007.13:g.44102329T>G , CM000669.1:g.44102329T>G	GRCh37
NC_000007.12:g.44068854T>G	NCBI36
NG_013016.1:g.7858A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297283.4:c.*34A>C (PGAM2) MANE Select	ENSP00000297283.3:n.*34A>C
ENST00000448521.6:c.*1814T>G (DBNL) MANE Select	ENSP00000411701.1:n.*1814T>G
ENST00000297283.3:c.*34A>C (PGAM2)	ENSP00000297283.3:n.*34A>C
ENST00000432854.5:c.2892T>G (DBNL)
NM_000290.3:c.*34A>C (PGAM2)	NP_000281.2:n.*34A>C
NM_000290.4:c.*34A>C (PGAM2) MANE Select	NP_000281.2:n.*34A>C
NM_001014436.3:c.*1814T>G (DBNL) MANE Select	NP_001014436.1:n.*1814T>G
NM_001122956.2:c.*1814T>G (DBNL)	NP_001116428.1:n.*1814T>G
NM_001284313.2:c.*1814T>G (DBNL)	NP_001271242.1:n.*1814T>G
NM_001362723.2:c.*1814T>G (DBNL)	NP_001349652.1:n.*1814T>G
NM_014063.7:c.*1814T>G (DBNL)	NP_054782.2:n.*1814T>G
NM_001284315.2:c.*1814T>G (DBNL)	NP_001271244.1:n.*1814T>G