HGVS | Genome Assembly |
---|---|
NC_000003.12:g.181713118dup , CM000665.2:g.181713118dup | GRCh38 |
NC_000003.11:g.181430906dup , CM000665.1:g.181430906dup | GRCh37 |
NC_000003.10:g.182913600dup | NCBI36 |
NG_009080.1:g.6185dup , LRG_719:g.6185dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325404.3:c.758dup (SOX2) MANE Select | ENSP00000323588.1:p.Val254CysfsTer? | |
ENST00000325404.2:c.758dup (SOX2) | ENSP00000323588.1:p.Val254CysfsTer? | |
NM_003106.3:c.758dup (SOX2) | NP_003097.1:p.Val254CysfsTer? | |
NR_004053.3:n.768-2067dup (SOX2-OT) | ||
NR_075089.1:n.767+13235dup (SOX2-OT) | ||
NR_075090.1:n.482-26451dup (SOX2-OT) | ||
NR_075091.1:n.783-2067dup (SOX2-OT) | ||
NR_075092.1:n.782+13235dup (SOX2-OT) | ||
NR_075093.1:n.473-26451dup (SOX2-OT) | ||
NM_003106.4:c.758dup (SOX2) MANE Select | NP_003097.1:p.Val254CysfsTer? |