Linked Data
ClinVar Variation Id:
2427882
ClinVar RCV Id:
RCV003116853
dbSNP Id:
rs112718874
ExAC:
7:44102537 G / A
gnomAD v2:
7-44102537-G-A
gnomAD v3:
7-44062938-G-A
gnomAD v4:
7-44062938-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44062938G>A , CM000669.2:g.44062938G>A | GRCh38 |
| NC_000007.13:g.44102537G>A , CM000669.1:g.44102537G>A | GRCh37 |
| NC_000007.12:g.44069062G>A | NCBI36 |
| NG_013016.1:g.7650C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297283.4:c.596-8C>T (PGAM2) MANE Select | ENSP00000297283.3:n.596-8C>T | |
| ENST00000448521.6:c.*2022G>A (DBNL) MANE Select | ENSP00000411701.1:n.*2022G>A | |
| ENST00000297283.3:c.596-8C>T (PGAM2) | ENSP00000297283.3:n.596-8C>T | |
| ENST00000432854.5:c.3100G>A (DBNL) | ||
| NM_000290.3:c.596-8C>T (PGAM2) | NP_000281.2:n.596-8C>T | |
| XM_011515426.1:c.415-8C>T (PGAM2) | XP_011513728.1:n.415-8C>T | |
| NM_000290.4:c.596-8C>T (PGAM2) MANE Select | NP_000281.2:n.596-8C>T | |
| NM_001014436.3:c.*2022G>A (DBNL) MANE Select | NP_001014436.1:n.*2022G>A | |
| NM_001122956.2:c.*2022G>A (DBNL) | NP_001116428.1:n.*2022G>A | |
| NM_001284313.2:c.*2022G>A (DBNL) | NP_001271242.1:n.*2022G>A | |
| NM_001362723.2:c.*2022G>A (DBNL) | NP_001349652.1:n.*2022G>A | |
| NM_014063.7:c.*2022G>A (DBNL) | NP_054782.2:n.*2022G>A | |
| NM_001284315.2:c.*2022G>A (DBNL) | NP_001271244.1:n.*2022G>A |