Linked Data
dbSNP Id:
rs2103330282
gnomAD v4:
2-15945503-T-C
MyVariant Identifiers:
chr2:g.16085625T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945503T>C , CM000664.2:g.15945503T>C | GRCh38 |
| NC_000002.11:g.16085625T>C , CM000664.1:g.16085625T>C | GRCh37 |
| NC_000002.10:g.16003076T>C | NCBI36 |
| NG_007457.1:g.9943T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.150T>C | ||
| ENST00000281043.4:c.801T>C MANE Select | ENSP00000281043.3:p.Asp267= | |
| ENST00000638417.1:c.168T>C | ENSP00000491476.1:p.Asp56= | |
| ENST00000281043.3:c.801T>C | ENSP00000281043.3:p.Asp267= | |
| NM_001293228.1:c.801T>C | NP_001280157.1:p.Asp267= | |
| NM_001293231.1:c.168T>C | NP_001280160.1:p.Asp56= | |
| NM_001293233.1:c.*736T>C | NP_001280162.1:n.*736T>C | |
| NM_005378.5:c.801T>C | NP_005369.2:p.Asp267= | |
| NM_005378.6:c.801T>C MANE Select | NP_005369.2:p.Asp267= | |
| NM_001293228.2:c.801T>C | NP_001280157.1:p.Asp267= | |
| NM_001293231.2:c.168T>C | NP_001280160.1:p.Asp56= | |
| NM_001293233.2:c.*736T>C | NP_001280162.1:n.*736T>C |