Linked Data
gnomAD v4:
2-206121987-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206121988dup , CM000664.2:g.206121988dup | GRCh38 |
| NC_000002.11:g.206986712dup , CM000664.1:g.206986712dup | GRCh37 |
| NC_000002.10:g.206694957dup | NCBI36 |
| NG_009248.1:g.42476dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.*2197dup MANE Select | ENSP00000233190.5:n.*2197dup | |
| ENST00000233190.10:c.*2197dup | ENSP00000233190.5:n.*2197dup | |
| NM_001199981.2:c.*2197dup | NP_001186910.1:n.*2197dup | |
| NM_001199982.2:c.*2197dup | NP_001186911.1:n.*2197dup | |
| NM_001199983.2:c.*2197dup | NP_001186912.1:n.*2197dup | |
| NM_005006.7:c.*2197dup MANE Select | NP_004997.4:n.*2197dup | |
| NM_001199984.2:c.*2197dup | NP_001186913.1:n.*2197dup |