Linked Data
ClinVar Variation Id:
2580023
ClinVar RCV Id:
RCV003328998
dbSNP Id:
rs969651735
gnomAD v4:
5-74721776-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74721776G>A , CM000667.2:g.74721776G>A | GRCh38 |
| NC_000005.9:g.74017601G>A , CM000667.1:g.74017601G>A | GRCh37 |
| NC_000005.8:g.74053357G>A | NCBI36 |
| NG_009770.1:g.41633G>A | |
| NG_011531.1:g.50442C>T | |
| NG_009770.2:g.86754G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296805.8:c.2219C>T (GFM2) MANE Select | ENSP00000296805.3:p.Ser740Leu | |
| ENST00000296805.7:c.2219C>T (GFM2) | ENSP00000296805.3:p.Ser740Leu | |
| ENST00000345239.6:c.2078C>T (GFM2) | ENSP00000296804.3:p.Ser693Leu | |
| ENST00000503312.5:c.608+340G>A (HEXB) | ||
| ENST00000505859.1:c.255+340G>A (HEXB) | ||
| ENST00000509430.5:c.2219C>T (GFM2) | ENSP00000427004.1:p.Ser740Leu | |
| ENST00000513867.1:n.380+340G>A (HEXB) | ||
| ENST00000515125.5:n.622C>T (GFM2) | ||
| NM_001281302.1:c.2315C>T (GFM2) | NP_001268231.1:p.Ser772Leu | |
| NM_032380.4:c.2219C>T (GFM2) | NP_115756.2:p.Ser740Leu | |
| NM_170691.2:c.2078C>T (GFM2) | NP_733792.1:p.Ser693Leu | |
| NR_104006.1:n.2538C>T (GFM2) | ||
| XM_006714721.2:c.2084C>T (GFM2) | XP_006714784.1:p.Ser695Leu | |
| XM_011543690.1:c.2219C>T (GFM2) | XP_011541992.1:p.Ser740Leu | |
| XM_017009986.1:c.2219C>T (GFM2) | XP_016865475.1:p.Ser740Leu | |
| XR_002956185.1:n.3505C>T (GFM2) | ||
| NM_032380.5:c.2219C>T (GFM2) MANE Select | NP_115756.2:p.Ser740Leu | |
| NM_001281302.2:c.2315C>T (GFM2) | NP_001268231.1:p.Ser772Leu | |
| NM_170691.3:c.2078C>T (GFM2) | NP_733792.1:p.Ser693Leu | |
| NR_104006.2:n.2284C>T (GFM2) |