Linked Data
dbSNP Id:
rs1364773608
MyVariant Identifiers:
chr2:g.189858274_189858275insTTCA (hg19)
chr2:g.188993548_188993549insTTCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188993549_188993552dup , CM000664.2:g.188993549_188993552dup | GRCh38 |
| NC_000002.11:g.189858275_189858278dup , CM000664.1:g.189858275_189858278dup | GRCh37 |
| NC_000002.10:g.189566520_189566523dup | NCBI36 |
| NG_007404.1:g.24177_24180dup , LRG_3:g.24177_24180dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1051-489_1051-486dup | ENSP00000415346.2:n.1051-489_1051-486dup | |
| ENST00000304636.9:c.1149+90_1149+93dup MANE Select | ENSP00000304408.4:n.1149+90_1149+93dup | |
| ENST00000304636.7:c.1149+90_1149+93dup | ENSP00000304408.3:n.1149+90_1149+93dup | |
| ENST00000317840.9:c.1149+90_1149+93dup | ENSP00000315243.6:n.1149+90_1149+93dup | |
| ENST00000450867.1:c.149-489_149-486dup | ||
| NM_000090.3:c.1149+90_1149+93dup , LRG_3t1:c.1149+90_1149+93dup | NP_000081.1:n.1149+90_1149+93dup | |
| NM_000090.4:c.1149+90_1149+93dup MANE Select | NP_000081.2:n.1149+90_1149+93dup |