MyVariant.info:
GRCh38
chr2:g.74145235dupT
GRCh38
chr2:g.74145234_74145235insT
GRCh37
chr2:g.74372362dupT
GRCh37
chr2:g.74372361_74372362insT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74145237dup , CM000664.2:g.74145237dup | GRCh38 |
| NC_000002.11:g.74372364dup , CM000664.1:g.74372364dup | GRCh37 |
| NC_000002.10:g.74225872dup | NCBI36 |
| NG_031910.1:g.7678dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327428.10:c.123dup MANE Select | ENSP00000331369.5:p.Glu42ArgfsTer13 | |
| ENST00000295326.4:c.123dup | ENSP00000295326.4:p.Glu42ArgfsTer13 | |
| ENST00000327428.9:c.123dup | ENSP00000331369.5:p.Glu42ArgfsTer13 | |
| ENST00000469676.1:n.1146dup | ||
| ENST00000477685.5:n.274dup | ||
| ENST00000484655.1:n.2678dup | ||
| NM_001035505.1:c.123dup | NP_001030582.1:p.Glu42ArgfsTer13 | |
| NM_212552.2:c.123dup | NP_997717.2:p.Glu42ArgfsTer13 | |
| NM_212552.3:c.123dup MANE Select | NP_997717.2:p.Glu42ArgfsTer13 | |
| NM_001035505.2:c.123dup | NP_001030582.1:p.Glu42ArgfsTer13 |