Linked Data
dbSNP Id:
rs2103330489
gnomAD v4:
2-15945563-C-T
MyVariant Identifiers:
chr2:g.16085685C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945563C>T , CM000664.2:g.15945563C>T | GRCh38 |
| NC_000002.11:g.16085685C>T , CM000664.1:g.16085685C>T | GRCh37 |
| NC_000002.10:g.16003136C>T | NCBI36 |
| NG_007457.1:g.10003C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.210C>T | ||
| ENST00000281043.4:c.861C>T MANE Select | ENSP00000281043.3:p.Ser287= | |
| ENST00000638417.1:c.228C>T | ENSP00000491476.1:p.Ser76= | |
| ENST00000281043.3:c.861C>T | ENSP00000281043.3:p.Ser287= | |
| NM_001293228.1:c.861C>T | NP_001280157.1:p.Ser287= | |
| NM_001293231.1:c.228C>T | NP_001280160.1:p.Ser76= | |
| NM_001293233.1:c.*796C>T | NP_001280162.1:n.*796C>T | |
| NM_005378.5:c.861C>T | NP_005369.2:p.Ser287= | |
| NM_005378.6:c.861C>T MANE Select | NP_005369.2:p.Ser287= | |
| NM_001293228.2:c.861C>T | NP_001280157.1:p.Ser287= | |
| NM_001293231.2:c.228C>T | NP_001280160.1:p.Ser76= | |
| NM_001293233.2:c.*796C>T | NP_001280162.1:n.*796C>T |