Linked Data
dbSNP Id:
rs1330296847
gnomAD v3:
2-149569651-G-GTGAT
gnomAD v4:
2-149569651-G-GTGAT
MyVariant Identifiers:
chr2:g.150426165_150426166insTGAT (hg19)
chr2:g.149569651_149569652insTGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149569653_149569656dup , CM000664.2:g.149569653_149569656dup | GRCh38 |
| NC_000002.11:g.150426167_150426170dup , CM000664.1:g.150426167_150426170dup | GRCh37 |
| NC_000002.10:g.150134413_150134416dup | NCBI36 |
| NG_009189.1:g.23162_23165dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.*319_*322dup MANE Select | ENSP00000301920.5:n.*319_*322dup | |
| ENST00000303319.9:c.*319_*322dup | ENSP00000301920.5:n.*319_*322dup | |
| ENST00000428879.5:c.*319_*322dup | ENSP00000389060.1:n.*319_*322dup | |
| NM_015702.2:c.*319_*322dup | NP_056517.1:n.*319_*322dup | |
| NM_015702.3:c.*319_*322dup MANE Select | NP_056517.1:n.*319_*322dup |