Linked Data
dbSNP Id:
rs751424467
ExAC:
2:108994915 T / TCCAAG
gnomAD v2:
2-108994915-T-TCCAAG
gnomAD v4:
2-108378459-T-TCCAAG
MyVariant Identifiers:
chr2:g.108994915_108994916insCCAAG (hg19)
chr2:g.108378459_108378460insCCAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108378467_108378471dup , CM000664.2:g.108378467_108378471dup | GRCh38 |
| NC_000002.11:g.108994923_108994927dup , CM000664.1:g.108994923_108994927dup | GRCh37 |
| NC_000002.10:g.108361355_108361359dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272452.7:c.130_134dup MANE Select | ENSP00000272452.2:p.Asp46SerfsTer21 | |
| ENST00000272452.6:c.130_134dup | ENSP00000272452.2:p.Asp46SerfsTer21 | |
| ENST00000409309.3:c.130_134dup | ENSP00000387225.3:p.Asp46SerfsTer21 | |
| ENST00000494122.1:n.557_561dup | ||
| NM_006588.2:c.130_134dup | NP_006579.2:p.Asp46SerfsTer21 | |
| XM_005263919.2:c.130_134dup | XP_005263976.1:p.Asp46SerfsTer21 | |
| NM_001321770.1:c.130_134dup | NP_001308699.1:p.Asp46SerfsTer21 | |
| NM_006588.3:c.130_134dup | NP_006579.2:p.Asp46SerfsTer21 | |
| NR_135776.1:n.557_561dup | ||
| NR_135779.1:n.557_561dup | ||
| XM_017003807.1:c.-191_-187dup | XP_016859296.1:n.-191_-187dup | |
| NM_006588.4:c.130_134dup MANE Select | NP_006579.2:p.Asp46SerfsTer21 | |
| NM_001321770.2:c.130_134dup | NP_001308699.1:p.Asp46SerfsTer21 | |
| NR_135776.2:n.514_518dup | ||
| NR_135779.2:n.514_518dup |