Canonical Allele Identifier: CA114262

Linked Data

ClinVar Variation Id: 421
dbSNP Id: rs77938727
gnomAD v2: 7-44104839-C-T
gnomAD v3: 7-44065240-C-T
gnomAD v4: 7-44065240-C-T
COSMIC: COSM150277

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44065240C>T , CM000669.2:g.44065240C>T GRCh38
NC_000007.13:g.44104839C>T , CM000669.1:g.44104839C>T GRCh37
NC_000007.12:g.44071364C>T NCBI36
NG_013016.1:g.5348G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297283.4:c.290G>A (PGAM2) MANE Select ENSP00000297283.3:p.Gly97Asp
ENST00000448521.6:c.*4324C>T (DBNL) MANE Select ENSP00000411701.1:n.*4324C>T
ENST00000297283.3:c.290G>A (PGAM2) ENSP00000297283.3:p.Gly97Asp
ENST00000432854.5:c.5402C>T (DBNL)
NM_000290.3:c.290G>A (PGAM2) NP_000281.2:p.Gly97Asp
XM_011515426.1:c.290G>A (PGAM2) XP_011513728.1:p.Gly97Asp
NM_000290.4:c.290G>A (PGAM2) MANE Select NP_000281.2:p.Gly97Asp
NM_001014436.3:c.*4324C>T (DBNL) MANE Select NP_001014436.1:n.*4324C>T
NM_001122956.2:c.*4324C>T (DBNL) NP_001116428.1:n.*4324C>T
NM_001284313.2:c.*4324C>T (DBNL) NP_001271242.1:n.*4324C>T
NM_001362723.2:c.*4324C>T (DBNL) NP_001349652.1:n.*4324C>T
NM_014063.7:c.*4324C>T (DBNL) NP_054782.2:n.*4324C>T
NM_001284315.2:c.*4324C>T (DBNL) NP_001271244.1:n.*4324C>T