Linked Data
MyVariant Identifiers:
chr2:g.84652680A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425556A>G , CM000664.2:g.84425556A>G | GRCh38 |
| NC_000002.11:g.84652680A>G , CM000664.1:g.84652680A>G | GRCh37 |
| NC_000002.10:g.84506191A>G | NCBI36 |
| NG_016755.1:g.38907T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.873T>C MANE Select | ENSP00000377446.2:p.Ala291= | |
| ENST00000651342.1:c.*313T>C | ENSP00000498471.1:n.*313T>C | |
| ENST00000393868.6:c.873T>C | ENSP00000377446.2:p.Ala291= | |
| ENST00000484365.1:n.1381T>C | ||
| ENST00000487809.1:n.620T>C | ||
| ENST00000491123.5:n.719T>C | ||
| NM_003849.3:c.873T>C | NP_003840.2:p.Ala291= | |
| NM_003849.4:c.873T>C MANE Select | NP_003840.2:p.Ala291= |