Canonical Allele Identifier: CA4236626

Gene: PGAM2 DBNL

Linked Data

• ClinVar Variation Id: 289850
• ClinVar RCV Id: RCV000726387 ; RCV001503664 ; RCV003940073
• dbSNP Id: rs150570281
• ExAC: 7:44104819 C / T
• gnomAD v2: 7-44104819-C-T
• gnomAD v3: 7-44065220-C-T
• gnomAD v4: 7-44065220-C-T
• MyVariant Identifiers: chr7:g.44104819C>T (hg19) ; chr7:g.44065220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44065220C>T , CM000669.2:g.44065220C>T	GRCh38
NC_000007.13:g.44104819C>T , CM000669.1:g.44104819C>T	GRCh37
NC_000007.12:g.44071344C>T	NCBI36
NG_013016.1:g.5368G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297283.4:c.310G>A (PGAM2) MANE Select	ENSP00000297283.3:p.Ala104Thr
ENST00000448521.6:c.*4304C>T (DBNL) MANE Select	ENSP00000411701.1:n.*4304C>T
ENST00000297283.3:c.310G>A (PGAM2)	ENSP00000297283.3:p.Ala104Thr
ENST00000432854.5:c.5382C>T (DBNL)
NM_000290.3:c.310G>A (PGAM2)	NP_000281.2:p.Ala104Thr
XM_011515426.1:c.310G>A (PGAM2)	XP_011513728.1:p.Ala104Thr
NM_000290.4:c.310G>A (PGAM2) MANE Select	NP_000281.2:p.Ala104Thr
NM_001014436.3:c.*4304C>T (DBNL) MANE Select	NP_001014436.1:n.*4304C>T
NM_001122956.2:c.*4304C>T (DBNL)	NP_001116428.1:n.*4304C>T
NM_001284313.2:c.*4304C>T (DBNL)	NP_001271242.1:n.*4304C>T
NM_001362723.2:c.*4304C>T (DBNL)	NP_001349652.1:n.*4304C>T
NM_014063.7:c.*4304C>T (DBNL)	NP_054782.2:n.*4304C>T
NM_001284315.2:c.*4304C>T (DBNL)	NP_001271244.1:n.*4304C>T