Linked Data
dbSNP Id:
rs28365031
gnomAD v2:
2-96780988-C-CCTCCTCTT
MyVariant Identifiers:
chr2:g.96780988_96780989insCTCCTCTT (hg19)
chr2:g.96115249_96115250insCTCCTCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96115251_96115258dup , CM000664.2:g.96115251_96115258dup | GRCh38 |
| NC_000002.11:g.96780990_96780997dup , CM000664.1:g.96780990_96780997dup | GRCh37 |
| NC_000002.10:g.96144717_96144724dup | NCBI36 |
| NG_032950.1:g.5893_5900dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000620793.2:c.893_900dup MANE Select | ENSP00000480573.1:p.Glu301LysfsTer? | |
| ENST00000620793.1:c.893_900dup | ENSP00000480573.1:p.Glu301LysfsTer? | |
| NM_000682.6:c.893_900dup | NP_000673.2:p.Glu301LysfsTer? | |
| NM_000682.7:c.893_900dup MANE Select | NP_000673.2:p.Glu301LysfsTer? |