Linked Data
ClinVar Variation Id:
554314
ClinVar RCV Id:
RCV000669926
dbSNP Id:
rs180177171
gnomAD v3:
2-240868985-C-CG
gnomAD v4:
2-240868985-C-CG
MyVariant Identifiers:
chr2:g.240868991dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868991dup , CM000664.2:g.240868991dup | GRCh38 |
| NC_000002.11:g.241808408dup , CM000664.1:g.241808408dup | GRCh37 |
| NC_000002.10:g.241457081dup | NCBI36 |
| NG_008005.1:g.5247dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.126dup MANE Select | ENSP00000302620.3:p.Leu43AlafsTer? | |
| ENST00000307503.3:c.126dup | ENSP00000302620.3:p.Leu43AlafsTer? | |
| ENST00000472436.1:n.146dup | ||
| NM_000030.2:c.126dup | NP_000021.1:p.Leu43AlafsTer? | |
| XR_924060.1:n.405+1247dup | ||
| NM_000030.3:c.126dup MANE Select | NP_000021.1:p.Leu43AlafsTer? |