Linked Data
ClinVar Variation Id:
161538
ClinVar RCV Id:
RCV000149073
dbSNP Id:
rs193921056
ExAC:
2:86709230 GTGTT / G
gnomAD v2:
2-86709230-GTGTT-G
gnomAD v3:
2-86482107-GTGTT-G
gnomAD v4:
2-86482107-GTGTT-G
MyVariant Identifiers:
chr2:g.86709231_86709234del (hg19)
chr2:g.86482109_86482112del (hg38)
chr2:g.86482108_86482111del (hg38)
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86482116_86482119del , CM000664.2:g.86482116_86482119del | GRCh38 |
| NC_000002.11:g.86709239_86709242del , CM000664.1:g.86709239_86709242del | GRCh37 |
| NC_000002.10:g.86562750_86562753del | NCBI36 |
| NG_047167.1:g.46470_46473del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312912.10:c.2685+14_2685+17del MANE Select | ENSP00000323659.5:n.2685+14_2685+17del | |
| ENST00000312912.9:c.2685+14_2685+17del | ENSP00000323659.5:n.2685+14_2685+17del | |
| ENST00000409064.5:c.2685+14_2685+17del | ENSP00000386516.1:n.2685+14_2685+17del | |
| ENST00000409556.5:c.2685+14_2685+17del | ENSP00000386660.1:n.2685+14_2685+17del | |
| ENST00000441719.5:c.*2120+14_*2120+17del | ENSP00000394691.1:n.*2120+14_*2120+17del | |
| ENST00000542128.5:c.2685+14_2685+17del | ENSP00000438324.2:n.2685+14_2685+17del | |
| NM_001146688.1:c.2685+14_2685+17del | NP_001140160.1:n.2685+14_2685+17del | |
| NM_018433.5:c.2685+14_2685+17del | NP_060903.2:n.2685+14_2685+17del | |
| XM_006712051.2:c.705+14_705+17del | XP_006712114.1:n.705+14_705+17del | |
| XM_011532984.1:c.2730+14_2730+17del | XP_011531286.1:n.2730+14_2730+17del | |
| XM_011532985.1:c.2730+14_2730+17del | XP_011531287.1:n.2730+14_2730+17del | |
| XM_011532986.1:c.1875+14_1875+17del | XP_011531288.1:n.1875+14_1875+17del | |
| XM_006712051.4:c.705+14_705+17del | XP_006712114.1:n.705+14_705+17del | |
| XM_017004494.1:c.1830+14_1830+17del | XP_016859983.1:n.1830+14_1830+17del | |
| XM_024452994.1:c.2685+14_2685+17del | XP_024308762.1:n.2685+14_2685+17del | |
| XM_024452995.1:c.2685+14_2685+17del | XP_024308763.1:n.2685+14_2685+17del | |
| XM_024452996.1:c.1830+14_1830+17del | XP_024308764.1:n.1830+14_1830+17del | |
| XM_024452997.1:c.705+14_705+17del | XP_024308765.1:n.705+14_705+17del | |
| NM_018433.6:c.2685+14_2685+17del MANE Select | NP_060903.2:n.2685+14_2685+17del | |
| NM_001146688.2:c.2685+14_2685+17del | NP_001140160.1:n.2685+14_2685+17del |