Linked Data
dbSNP Id:
rs755193350
ExAC:
2:61605586 GT / G
gnomAD v2:
2-61605586-GT-G
gnomAD v3:
2-61378451-GT-G
gnomAD v4:
2-61378451-GT-G
MyVariant Identifiers:
chr2:g.61605589del (hg19)
chr2:g.61605587del (hg19)
chr2:g.61378454del (hg38)
chr2:g.61378452del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61378456del , CM000664.2:g.61378456del | GRCh38 |
| NC_000002.11:g.61605591del , CM000664.1:g.61605591del | GRCh37 |
| NC_000002.10:g.61459095del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398571.7:c.1015-28del MANE Select | ENSP00000381577.2:n.1015-28del | |
| ENST00000398571.6:c.1015-28del | ENSP00000381577.2:n.1015-28del | |
| ENST00000453133.1:c.541-28del | ||
| NM_014709.3:c.1015-28del | NP_055524.3:n.1015-28del | |
| NM_014709.4:c.1015-28del MANE Select | NP_055524.3:n.1015-28del |