Linked Data
MyVariant Identifiers:
chr2:g.241808298C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868881C>T , CM000664.2:g.240868881C>T | GRCh38 |
| NC_000002.11:g.241808298C>T , CM000664.1:g.241808298C>T | GRCh37 |
| NC_000002.10:g.241456971C>T | NCBI36 |
| NG_008005.1:g.5137C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.16C>T MANE Select | ENSP00000302620.3:p.Leu6= | |
| ENST00000307503.3:c.16C>T | ENSP00000302620.3:p.Leu6= | |
| ENST00000472436.1:n.36C>T | ||
| NM_000030.2:c.16C>T | NP_000021.1:p.Leu6= | |
| XR_924060.1:n.405+1352G>A | ||
| NM_000030.3:c.16C>T MANE Select | NP_000021.1:p.Leu6= |