Linked Data
dbSNP Id:
rs1453677109
gnomAD v3:
2-96250829-C-CTATG
gnomAD v4:
2-96250829-C-CTATG
MyVariant Identifiers:
chr2:g.96916567_96916568insTATG (hg19)
chr2:g.96250829_96250830insTATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96250830_96250833dup , CM000664.2:g.96250830_96250833dup | GRCh38 |
| NC_000002.11:g.96916568_96916571dup , CM000664.1:g.96916568_96916571dup | GRCh37 |
| NC_000002.10:g.96280295_96280298dup | NCBI36 |
| NG_027695.1:g.20181_20184dup , LRG_528:g.20181_20184dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.*2975_*2978dup MANE Select | ENSP00000258439.3:n.*2975_*2978dup | |
| ENST00000258439.7:c.*2975_*2978dup | ENSP00000258439.2:n.*2975_*2978dup | |
| NM_001193304.2:c.*2975_*2978dup | NP_001180233.1:n.*2975_*2978dup | |
| NM_017849.3:c.*2975_*2978dup , LRG_528t1:c.*2975_*2978dup | NP_060319.1:n.*2975_*2978dup | |
| XM_017004450.1:c.*2276_*2279dup | XP_016859939.1:n.*2276_*2279dup | |
| XM_017004452.1:c.*2975_*2978dup | XP_016859941.1:n.*2975_*2978dup | |
| NM_001193304.3:c.*2975_*2978dup | NP_001180233.1:n.*2975_*2978dup | |
| NM_017849.4:c.*2975_*2978dup MANE Select | NP_060319.1:n.*2975_*2978dup |