Linked Data
dbSNP Id:
rs1322083715
MyVariant Identifiers:
chr2:g.20198168_20198169insATCT (hg19)
chr2:g.19998407_19998408insATCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19998408_19998411dup , CM000664.2:g.19998408_19998411dup | GRCh38 |
| NC_000002.11:g.20198169_20198172dup , CM000664.1:g.20198169_20198172dup | GRCh37 |
| NC_000002.10:g.20061650_20061653dup | NCBI36 |
| NG_008087.1:g.19284_19287dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.1169-1152_1169-1149dup (MATN3) MANE Select | ENSP00000383894.3:n.1169-1152_1169-1149dup | |
| ENST00000407540.7:c.1169-1152_1169-1149dup (MATN3) | ENSP00000383894.3:n.1169-1152_1169-1149dup | |
| ENST00000421259.2:c.1043-1152_1043-1149dup (MATN3) | ENSP00000398753.2:n.1043-1152_1043-1149dup | |
| NM_002381.4:c.1169-1152_1169-1149dup (MATN3) | NP_002372.1:n.1169-1152_1169-1149dup | |
| NR_110235.1:n.292-798_292-795dup (WDR35-DT) | ||
| NM_002381.5:c.1169-1152_1169-1149dup (MATN3) MANE Select | NP_002372.1:n.1169-1152_1169-1149dup |