Linked Data
ClinVar Variation Id:
333617
dbSNP Id:
rs375624016
gnomAD v2:
2-203241234-A-AGGC
gnomAD v3:
2-202376511-A-AGGC
gnomAD v4:
2-202376511-A-AGGC
MyVariant Identifiers:
chr2:g.203241268_203241270dupGGC (hg19)
chr2:g.203241243_203241244insGGC (hg19)
chr2:g.203241240_203241241insGGC (hg19)
chr2:g.203241234_203241235insGGC (hg19)
chr2:g.202376545_202376547dupGGC (hg38)
chr2:g.202376520_202376521insGGC (hg38)
chr2:g.202376511_202376512insGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202376545_202376547dup , CM000664.2:g.202376545_202376547dup | GRCh38 |
| NC_000002.11:g.203241268_203241270dup , CM000664.1:g.203241268_203241270dup | GRCh37 |
| NC_000002.10:g.202949513_202949515dup | NCBI36 |
| NG_009363.1:g.5219_5221dup , LRG_712:g.5219_5221dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.-930_-928dup MANE Select | ENSP00000363708.4:n.-930_-928dup | |
| NM_001204.6:c.-930_-928dup , LRG_712t1:c.-930_-928dup | NP_001195.2:n.-930_-928dup | |
| XM_011511687.1:c.-930_-928dup | XP_011509989.1:n.-930_-928dup | |
| XM_011511688.1:c.-930_-928dup | XP_011509990.1:n.-930_-928dup | |
| NM_001204.7:c.-930_-928dup MANE Select | NP_001195.2:n.-930_-928dup |