Linked Data
dbSNP Id:
rs774431492
ExAC:
2:215876258 GA / G
gnomAD v2:
2-215876258-GA-G
MyVariant Identifiers:
chr2:g.215876259del (hg19)
chr2:g.215011536del (hg38)
chr2:g.215011535del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215011536del , CM000664.2:g.215011536del | GRCh38 |
| NC_000002.11:g.215876260del , CM000664.1:g.215876260del | GRCh37 |
| NC_000002.10:g.215584505del | NCBI36 |
| NG_007074.1:g.131893del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.2236del MANE Select | ENSP00000272895.7:p.Ser746ProfsTer13 | |
| ENST00000272895.11:c.2236del | ENSP00000272895.7:p.Ser746ProfsTer13 | |
| ENST00000389661.4:c.1282del | ENSP00000374312.4:p.Ser428ProfsTer13 | |
| NM_015657.3:c.1282del | NP_056472.2:p.Ser428ProfsTer13 | |
| NM_173076.2:c.2236del | NP_775099.2:p.Ser746ProfsTer13 | |
| NR_103740.1:n.2480del | ||
| XM_011510951.1:c.2236del | XP_011509253.1:p.Ser746ProfsTer13 | |
| XM_011510952.1:c.2236del | XP_011509254.1:p.Ser746ProfsTer13 | |
| XM_011510951.2:c.2236del | XP_011509253.1:p.Ser746ProfsTer13 | |
| NM_173076.3:c.2236del MANE Select | NP_775099.2:p.Ser746ProfsTer13 | |
| NR_103740.2:n.2678del | ||
| NM_015657.4:c.1282del | NP_056472.2:p.Ser428ProfsTer13 |