Canonical Allele Identifier: CA10629218

Gene: PGAM2 DBNL

Linked Data

• ClinVar Variation Id: 360269
• ClinVar RCV Id: RCV000263380
• dbSNP Id: rs374509693
• gnomAD v2: 7-44102328-T-C
• gnomAD v3: 7-44062729-T-C
• gnomAD v4: 7-44062729-T-C
• MyVariant Identifiers: chr7:g.44102328T>C (hg19) ; chr7:g.44062729T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44062729T>C , CM000669.2:g.44062729T>C	GRCh38
NC_000007.13:g.44102328T>C , CM000669.1:g.44102328T>C	GRCh37
NC_000007.12:g.44068853T>C	NCBI36
NG_013016.1:g.7859A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297283.4:c.*35A>G (PGAM2) MANE Select	ENSP00000297283.3:n.*35A>G
ENST00000448521.6:c.*1813T>C (DBNL) MANE Select	ENSP00000411701.1:n.*1813T>C
ENST00000297283.3:c.*35A>G (PGAM2)	ENSP00000297283.3:n.*35A>G
ENST00000432854.5:c.2891T>C (DBNL)
NM_000290.3:c.*35A>G (PGAM2)	NP_000281.2:n.*35A>G
NM_000290.4:c.*35A>G (PGAM2) MANE Select	NP_000281.2:n.*35A>G
NM_001014436.3:c.*1813T>C (DBNL) MANE Select	NP_001014436.1:n.*1813T>C
NM_001122956.2:c.*1813T>C (DBNL)	NP_001116428.1:n.*1813T>C
NM_001284313.2:c.*1813T>C (DBNL)	NP_001271242.1:n.*1813T>C
NM_001362723.2:c.*1813T>C (DBNL)	NP_001349652.1:n.*1813T>C
NM_014063.7:c.*1813T>C (DBNL)	NP_054782.2:n.*1813T>C
NM_001284315.2:c.*1813T>C (DBNL)	NP_001271244.1:n.*1813T>C