Linked Data
dbSNP Id:
rs1559180709
gnomAD v2:
2-219925163-T-TCGGGGC
gnomAD v4:
2-219060441-T-TCGGGGC
MyVariant Identifiers:
chr2:g.219925163_219925164insCGGGGC (hg19)
chr2:g.219060441_219060442insCGGGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060445_219060450dup , CM000664.2:g.219060445_219060450dup | GRCh38 |
| NC_000002.11:g.219925167_219925172dup , CM000664.1:g.219925167_219925172dup | GRCh37 |
| NC_000002.10:g.219633411_219633416dup | NCBI36 |
| NG_016741.1:g.5070_5075dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.21_26dup MANE Select | ENSP00000295731.5:p.Arg9_Leu10insProArg | |
| ENST00000295731.6:c.21_26dup | ENSP00000295731.5:p.Arg9_Leu10insProArg | |
| NM_002181.3:c.21_26dup | NP_002172.2:p.Arg9_Leu10insProArg | |
| NM_002181.4:c.21_26dup MANE Select | NP_002172.2:p.Arg9_Leu10insProArg |