Canonical Allele Identifier: CA4236494

Gene: PGAM2 DBNL

Linked Data

• ClinVar Variation Id: 440991
• ClinVar RCV Id: RCV000509297 ; RCV001200533 ; RCV003935335
• dbSNP Id: rs140230479
• ExAC: 7:44102418 T / G
• gnomAD v2: 7-44102418-T-G
• gnomAD v3: 7-44062819-T-G
• gnomAD v4: 7-44062819-T-G
• COSMIC: COSM4162219
• MyVariant Identifiers: chr7:g.44102418T>G (hg19) ; chr7:g.44062819T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44062819T>G , CM000669.2:g.44062819T>G	GRCh38
NC_000007.13:g.44102418T>G , CM000669.1:g.44102418T>G	GRCh37
NC_000007.12:g.44068943T>G	NCBI36
NG_013016.1:g.7769A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297283.4:c.707A>C (PGAM2) MANE Select	ENSP00000297283.3:p.Glu236Ala
ENST00000448521.6:c.*1903T>G (DBNL) MANE Select	ENSP00000411701.1:n.*1903T>G
ENST00000297283.3:c.707A>C (PGAM2)	ENSP00000297283.3:p.Glu236Ala
ENST00000432854.5:c.2981T>G (DBNL)
NM_000290.3:c.707A>C (PGAM2)	NP_000281.2:p.Glu236Ala
NM_000290.4:c.707A>C (PGAM2) MANE Select	NP_000281.2:p.Glu236Ala
NM_001014436.3:c.*1903T>G (DBNL) MANE Select	NP_001014436.1:n.*1903T>G
NM_001122956.2:c.*1903T>G (DBNL)	NP_001116428.1:n.*1903T>G
NM_001284313.2:c.*1903T>G (DBNL)	NP_001271242.1:n.*1903T>G
NM_001362723.2:c.*1903T>G (DBNL)	NP_001349652.1:n.*1903T>G
NM_014063.7:c.*1903T>G (DBNL)	NP_054782.2:n.*1903T>G
NM_001284315.2:c.*1903T>G (DBNL)	NP_001271244.1:n.*1903T>G