Linked Data
dbSNP Id:
rs1685662570
gnomAD v4:
2-113062473-C-G
MyVariant Identifiers:
chr2:g.113820050C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113062473C>G , CM000664.2:g.113062473C>G | GRCh38 |
| NC_000002.11:g.113820050C>G , CM000664.1:g.113820050C>G | GRCh37 |
| NC_000002.10:g.113536521C>G | NCBI36 |
| NG_031864.1:g.8836C>G , LRG_730:g.8836C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437409.2:c.264C>G | ENSP00000409262.2:p.Leu88= | |
| ENST00000393200.7:c.264C>G MANE Select | ENSP00000376896.2:p.Leu88= | |
| ENST00000346807.7:c.264C>G | ENSP00000259212.3:p.Leu88= | |
| ENST00000393200.6:c.264C>G | ENSP00000376896.2:p.Leu88= | |
| ENST00000437409.1:c.264C>G | ENSP00000409262.1:p.Leu88= | |
| NM_012275.2:c.264C>G , LRG_730t2:c.264C>G | NP_036407.1:p.Leu88= | |
| NM_173170.1:c.264C>G , LRG_730t1:c.264C>G | NP_775262.1:p.Leu88= | |
| NM_012275.3:c.264C>G MANE Select | NP_036407.1:p.Leu88= |