Linked Data
dbSNP Id:
rs753337903
gnomAD v2:
2-31792522-G-GTATATA
gnomAD v3:
2-31567452-G-GTATATA
gnomAD v4:
2-31567452-G-GTATATA
MyVariant Identifiers:
chr2:g.31792522_31792523insTATATA (hg19)
chr2:g.31567452_31567453insTATATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31567453_31567454insATATAT , CM000664.2:g.31567453_31567454insATATAT | GRCh38 |
| NC_000002.11:g.31792523_31792524insATATAT , CM000664.1:g.31792523_31792524insATATAT | GRCh37 |
| NC_000002.10:g.31646027_31646028insATATAT | NCBI36 |
| NG_008365.1:g.18519_18520insTATATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.281+13167_281+13168insTATATA MANE Select | ENSP00000477587.1:n.281+13167_281+13168insTATATA | |
| ENST00000622030.1:c.281+13167_281+13168insTATATA | ENSP00000477587.1:n.281+13167_281+13168insTATATA | |
| NM_000348.3:c.281+13167_281+13168insTATATA | NP_000339.2:n.281+13167_281+13168insTATATA | |
| XM_011533068.1:c.281+13167_281+13168insTATATA | XP_011531370.1:n.281+13167_281+13168insTATATA | |
| XM_011533070.1:c.27-33687_27-33686insTATATA | XP_011531372.1:n.27-33687_27-33686insTATATA | |
| XM_011533071.1:c.27-33687_27-33686insTATATA | XP_011531373.1:n.27-33687_27-33686insTATATA | |
| XM_011533072.1:c.27-33687_27-33686insTATATA | XP_011531374.1:n.27-33687_27-33686insTATATA | |
| XM_011533072.2:c.27-33687_27-33686insTATATA | XP_011531374.1:n.27-33687_27-33686insTATATA | |
| NM_000348.4:c.281+13167_281+13168insTATATA MANE Select | NP_000339.2:n.281+13167_281+13168insTATATA |