Linked Data
dbSNP Id:
rs1328344274
gnomAD v3:
2-208248206-A-ATG
gnomAD v4:
2-208248206-A-ATG
MyVariant Identifiers:
chr2:g.209112930_209112931insTG (hg19)
chr2:g.208248206_208248207insTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208248212_208248213dup , CM000664.2:g.208248212_208248213dup | GRCh38 |
| NC_000002.11:g.209112936_209112937dup , CM000664.1:g.209112936_209112937dup | GRCh37 |
| NC_000002.10:g.208821181_208821182dup | NCBI36 |
| NG_023319.2:g.22867_22868dup , LRG_610:g.22867_22868dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345146.7:c.414+161_414+162dup MANE Select | ENSP00000260985.2:n.414+161_414+162dup | |
| ENST00000345146.6:c.414+161_414+162dup | ENSP00000260985.2:n.414+161_414+162dup | |
| ENST00000415282.5:c.414+161_414+162dup | ENSP00000391075.1:n.414+161_414+162dup | |
| ENST00000415913.5:c.414+161_414+162dup | ENSP00000390265.1:n.414+161_414+162dup | |
| ENST00000446179.5:c.414+161_414+162dup | ENSP00000410513.1:n.414+161_414+162dup | |
| ENST00000462386.5:n.788_789dup | ||
| NM_001282386.1:c.414+161_414+162dup , LRG_610t3:c.414+161_414+162dup | NP_001269315.1:n.414+161_414+162dup | |
| NM_001282387.1:c.414+161_414+162dup , LRG_610t2:c.414+161_414+162dup | NP_001269316.1:n.414+161_414+162dup | |
| NM_005896.3:c.414+161_414+162dup , LRG_610t1:c.414+161_414+162dup | NP_005887.2:n.414+161_414+162dup | |
| NM_005896.4:c.414+161_414+162dup MANE Select | NP_005887.2:n.414+161_414+162dup |