Linked Data
ClinVar Variation Id:
204189
ClinVar RCV Id:
RCV000186396
dbSNP Id:
rs180177237
MyVariant Identifiers:
chr2:g.241812428_241812433delinsATCGGT (hg19)
chr2:g.240873011_240873016delinsATCGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873011_240873016delinsATCGGT , CM000664.2:g.240873011_240873016delinsATCGGT | GRCh38 |
| NC_000002.11:g.241812428_241812433delinsATCGGT , CM000664.1:g.241812428_241812433delinsATCGGT | GRCh37 |
| NC_000002.10:g.241461101_241461106delinsATCGGT | NCBI36 |
| NG_008005.1:g.9267_9272delinsATCGGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.557_562delinsATCGGT MANE Select | ENSP00000302620.3:p.Ala186_Ser187delinsAs... | |
| ENST00000307503.3:c.557_562delinsATCGGT | ENSP00000302620.3:p.Ala186_Ser187delinsAs... | |
| ENST00000472436.1:n.577_582delinsATCGGT | ||
| ENST00000476698.1:n.294_299delinsATCGGT | ||
| NM_000030.2:c.557_562delinsATCGGT | NP_000021.1:p.Ala186_Ser187delinsAspArg | |
| NM_000030.3:c.557_562delinsATCGGT MANE Select | NP_000021.1:p.Ala186_Ser187delinsAspArg |