Linked Data
MyVariant Identifiers:
chr2:g.103149084A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102532625A>C , CM000664.2:g.102532625A>C | GRCh38 |
| NC_000002.11:g.103149084A>C , CM000664.1:g.103149084A>C | GRCh37 |
| NC_000002.10:g.102515516A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295269.5:c.2334A>C MANE Select | ENSP00000295269.4:p.Thr778= | |
| ENST00000295269.4:c.2334A>C | ENSP00000295269.4:p.Thr778= | |
| NM_001011552.3:c.2334A>C | NP_001011552.2:p.Thr778= | |
| XM_011511158.1:c.2247A>C | XP_011509460.1:p.Thr749= | |
| NM_001011552.4:c.2334A>C MANE Select | NP_001011552.2:p.Thr778= |