Linked Data
dbSNP Id:
rs1399452704
gnomAD v2:
2-241522275-T-TAA
gnomAD v3:
2-240582858-T-TAA
gnomAD v4:
2-240582858-T-TAA
MyVariant Identifiers:
chr2:g.241522275_241522276insAA (hg19)
chr2:g.240582858_240582859insAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240582860_240582861dup , CM000664.2:g.240582860_240582861dup | GRCh38 |
| NC_000002.11:g.241522277_241522278dup , CM000664.1:g.241522277_241522278dup | GRCh37 |
| NC_000002.10:g.241170950_241170951dup | NCBI36 |
| NG_011558.2:g.1145_1146dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_103792.1:n.3457_3458dup |