Linked Data
ClinVar Variation Id:
552097
ClinVar RCV Id:
RCV000667302
dbSNP Id:
rs1553409686
MyVariant Identifiers:
chr2:g.73490100_73490107del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490100_73490107del , CM000664.2:g.73490100_73490107del | GRCh38 |
| NC_000002.11:g.73717227_73717234del , CM000664.1:g.73717227_73717234del | GRCh37 |
| NC_000002.10:g.73570735_73570742del | NCBI36 |
| NG_011690.1:g.109348_109355del , LRG_741:g.109348_109355del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7760_7767del | ENSP00000507671.1:p.Ser2587PhefsTer8 | |
| ENST00000682801.1:c.7760_7767del | ENSP00000507862.1:p.Ser2587PhefsTer8 | |
| ENST00000682859.1:c.7760_7767del | ENSP00000508222.1:p.Ser2587PhefsTer8 | |
| ENST00000683791.1:c.1152_1159del | ||
| ENST00000684460.1:c.5212_5219del | ||
| ENST00000684548.1:c.7760_7767del | ENSP00000507421.1:p.Ser2587PhefsTer8 | |
| ENST00000684590.1:c.2207_2214del | ENSP00000507376.1:p.Ser736PhefsTer8 | |
| ENST00000684656.1:c.5212_5219del | ||
| ENST00000613296.6:c.8141_8148del MANE Select | ENSP00000482968.1:p.Ser2714PhefsTer8 | |
| ENST00000651434.1:c.896-29675_896-29668del | ||
| ENST00000423048.5:c.2972_2979del | ENSP00000399833.1:p.Ser991PhefsTer8 | |
| ENST00000484298.5:c.8015_8022del | ENSP00000478155.1:p.Ser2672PhefsTer8 | |
| ENST00000613296.4:c.8141_8148del | ENSP00000482968.1:p.Ser2714PhefsTer8 | |
| ENST00000614410.4:c.8141_8148del | ENSP00000479094.1:p.Ser2714PhefsTer8 | |
| ENST00000620466.4:n.1944_1951del | ||
| NM_015120.4:c.8144_8151del , LRG_741t1:c.8144_8151del | NP_055935.4:p.Ser2715PhefsTer8 | |
| NM_001378454.1:c.8141_8148del MANE Select | NP_001365383.1:p.Ser2714PhefsTer8 |