Linked Data
ClinVar Variation Id:
556494
ClinVar RCV Id:
RCV000672509
dbSNP Id:
rs1553409676
MyVariant Identifiers:
chr2:g.73490037_73490039del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490037_73490039del , CM000664.2:g.73490037_73490039del | GRCh38 |
| NC_000002.11:g.73717164_73717166del , CM000664.1:g.73717164_73717166del | GRCh37 |
| NC_000002.10:g.73570672_73570674del | NCBI36 |
| NG_011690.1:g.109285_109287del , LRG_741:g.109285_109287del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7697_7699del | ENSP00000507671.1:p.Glu2566del | |
| ENST00000682801.1:c.7697_7699del | ENSP00000507862.1:p.Glu2566del | |
| ENST00000682859.1:c.7697_7699del | ENSP00000508222.1:p.Glu2566del | |
| ENST00000683791.1:c.1089_1091del | ||
| ENST00000684460.1:c.5149_5151del | ||
| ENST00000684548.1:c.7697_7699del | ENSP00000507421.1:p.Glu2566del | |
| ENST00000684590.1:c.2144_2146del | ENSP00000507376.1:p.Glu715del | |
| ENST00000684656.1:c.5149_5151del | ||
| ENST00000613296.6:c.8078_8080del MANE Select | ENSP00000482968.1:p.Glu2693del | |
| ENST00000651434.1:c.896-29738_896-29736del | ||
| ENST00000423048.5:c.2909_2911del | ENSP00000399833.1:p.Glu970del | |
| ENST00000484298.5:c.7952_7954del | ENSP00000478155.1:p.Glu2651del | |
| ENST00000613296.4:c.8078_8080del | ENSP00000482968.1:p.Glu2693del | |
| ENST00000614410.4:c.8078_8080del | ENSP00000479094.1:p.Glu2693del | |
| ENST00000620466.4:n.1881_1883del | ||
| NM_015120.4:c.8081_8083del , LRG_741t1:c.8081_8083del | NP_055935.4:p.Glu2694del | |
| NM_001378454.1:c.8078_8080del MANE Select | NP_001365383.1:p.Glu2693del |