Linked Data
ClinVar Variation Id:
204180
ClinVar RCV Id:
RCV000186387
dbSNP Id:
rs180177190
gnomAD v4:
2-240869285-T-TGGA
MyVariant Identifiers:
chr2:g.241808704_241808706dupGAG (hg19)
chr2:g.241808702_241808703insGGA (hg19)
chr2:g.240869287_240869289dupGAG (hg38)
chr2:g.240869285_240869286insGGA (hg38)
PubMed:
PMID:10453743
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869287_240869289dup , CM000664.2:g.240869287_240869289dup | GRCh38 |
| NC_000002.11:g.241808704_241808706dup , CM000664.1:g.241808704_241808706dup | GRCh37 |
| NC_000002.10:g.241457377_241457379dup | NCBI36 |
| NG_008005.1:g.5543_5545dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.283_285dup MANE Select | ENSP00000302620.3:p.Glu95_Pro96insGlu | |
| ENST00000307503.3:c.283_285dup | ENSP00000302620.3:p.Glu95_Pro96insGlu | |
| ENST00000472436.1:n.303_305dup | ||
| NM_000030.2:c.283_285dup | NP_000021.1:p.Glu95_Pro96insGlu | |
| XR_924060.1:n.405+945_405+947dup | ||
| NM_000030.3:c.283_285dup MANE Select | NP_000021.1:p.Glu95_Pro96insGlu |