Linked Data
dbSNP Id:
rs1194428756
gnomAD v2:
2-216190002-T-TGG
gnomAD v3:
2-215325279-T-TGG
gnomAD v4:
2-215325279-T-TGG
MyVariant Identifiers:
chr2:g.216190002_216190003insGG (hg19)
chr2:g.215325279_215325280insGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215325280_215325281dup , CM000664.2:g.215325280_215325281dup | GRCh38 |
| NC_000002.11:g.216190003_216190004dup , CM000664.1:g.216190003_216190004dup | GRCh37 |
| NC_000002.10:g.215898248_215898249dup | NCBI36 |
| NG_013002.1:g.18325_18326dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236959.14:c.330_331dup MANE Select | ENSP00000236959.9:p.Ala111GlyfsTer6 | |
| ENST00000236959.13:c.330_331dup | ENSP00000236959.9:p.Ala111GlyfsTer6 | |
| ENST00000413174.1:c.153_154dup | ENSP00000402393.1:p.Ala52GlyfsTer6 | |
| ENST00000427397.5:c.*380_*381dup | ENSP00000394317.1:n.*380_*381dup | |
| ENST00000435675.5:c.327_328dup | ENSP00000415935.1:p.Ala110GlyfsTer6 | |
| ENST00000443953.5:c.*427_*428dup | ENSP00000406792.1:n.*427_*428dup | |
| ENST00000444305.5:c.*8_*9dup | ENSP00000388675.1:n.*8_*9dup | |
| ENST00000488712.5:n.542_543dup | ||
| NM_004044.6:c.330_331dup | NP_004035.2:p.Ala111GlyfsTer6 | |
| XM_017004187.2:c.330_331dup | XP_016859676.1:p.Ala111GlyfsTer6 | |
| XM_024452919.1:c.153_154dup | XP_024308687.1:p.Ala52GlyfsTer6 | |
| NM_004044.7:c.330_331dup MANE Select | NP_004035.2:p.Ala111GlyfsTer6 |