Linked Data
ClinVar Variation Id:
556653
ClinVar RCV Id:
RCV000672685
dbSNP Id:
rs1553421739
MyVariant Identifiers:
chr2:g.73601397del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601397del , CM000664.2:g.73601397del | GRCh38 |
| NC_000002.11:g.73828524del , CM000664.1:g.73828524del | GRCh37 |
| NC_000002.10:g.73682032del | NCBI36 |
| NG_011690.1:g.220645del , LRG_741:g.220645del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11694del | ENSP00000507671.1:p.Arg3899GlufsTer4 | |
| ENST00000682801.1:c.11167-788del | ENSP00000507862.1:n.11167-788del | |
| ENST00000682859.1:c.11694del | ENSP00000508222.1:p.Arg3899GlufsTer4 | |
| ENST00000683791.1:c.4780del | ||
| ENST00000684460.1:c.8975del | ||
| ENST00000684548.1:c.11694del | ENSP00000507421.1:p.Arg3899GlufsTer4 | |
| ENST00000684590.1:c.6141del | ENSP00000507376.1:p.Arg2048GlufsTer4 | |
| ENST00000684656.1:c.9159del | ||
| ENST00000613296.6:c.12075del MANE Select | ENSP00000482968.1:p.Arg4026GlufsTer4 | |
| ENST00000651057.1:c.2229del | ENSP00000498504.1:p.Arg744GlufsTer4 | |
| ENST00000651434.1:c.3431del | ||
| ENST00000651750.1:c.1260+516del | ||
| ENST00000652487.1:c.3246del | ||
| ENST00000464408.3:n.250del | ||
| ENST00000484298.5:c.11949del | ENSP00000478155.1:p.Arg3984GlufsTer4 | |
| ENST00000613296.4:c.12075del | ENSP00000482968.1:p.Arg4026GlufsTer4 | |
| ENST00000620466.4:n.5878del | ||
| NM_015120.4:c.12078del , LRG_741t1:c.12078del | NP_055935.4:p.Arg4027GlufsTer4 | |
| NM_001378454.1:c.12075del MANE Select | NP_001365383.1:p.Arg4026GlufsTer4 |