Linked Data
ClinVar Variation Id:
374503
dbSNP Id:
rs1057519132
gnomAD v4:
2-71664400-GT-G
MyVariant Identifiers:
chr2:g.71891533del (hg19)
chr2:g.71891531del (hg19)
chr2:g.71664403del (hg38)
chr2:g.71664401del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71664403del , CM000664.2:g.71664403del | GRCh38 |
| NC_000002.11:g.71891533del , CM000664.1:g.71891533del | GRCh37 |
| NC_000002.10:g.71745041del | NCBI36 |
| NG_008694.1:g.215781del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698057.1:c.2553del | ENSP00000513536.1:p.Phe851LeufsTer? | |
| ENST00000698058.1:c.1770del | ENSP00000513537.1:p.Phe590LeufsTer? | |
| ENST00000698059.1:c.1878del | ENSP00000513538.1:p.Phe626LeufsTer? | |
| ENST00000258104.8:c.5022del MANE Plus Clinical | ENSP00000258104.3:p.Phe1674LeufsTer? | |
| ENST00000410020.8:c.5139del MANE Select | ENSP00000386881.3:p.Phe1713LeufsTer? | |
| ENST00000258104.7:c.5022del | ENSP00000258104.3:p.Phe1674LeufsTer? | |
| ENST00000394120.6:c.5025del | ENSP00000377678.2:p.Phe1675LeufsTer? | |
| ENST00000409366.5:c.5088del | ENSP00000386512.1:p.Phe1696LeufsTer? | |
| ENST00000409582.7:c.5136del | ENSP00000386547.3:p.Phe1712LeufsTer? | |
| ENST00000409651.5:c.5118del | ENSP00000386683.1:p.Phe1706LeufsTer? | |
| ENST00000409744.5:c.5046del | ENSP00000386285.1:p.Phe1682LeufsTer? | |
| ENST00000409762.5:c.5073del | ENSP00000387137.1:p.Phe1691LeufsTer? | |
| ENST00000410020.7:c.5139del | ENSP00000386881.3:p.Phe1713LeufsTer? | |
| ENST00000410041.1:c.5076del | ENSP00000386617.1:p.Phe1692LeufsTer? | |
| ENST00000413539.6:c.5115del | ENSP00000407046.2:p.Phe1705LeufsTer? | |
| ENST00000429174.6:c.5085del | ENSP00000398305.2:p.Phe1695LeufsTer? | |
| ENST00000479049.6:n.1907del | ||
| NM_001130455.1:c.5025del | NP_001123927.1:p.Phe1675LeufsTer? | |
| NM_001130976.1:c.4980del | NP_001124448.1:p.Phe1660LeufsTer? | |
| NM_001130977.1:c.5043del | NP_001124449.1:p.Phe1681LeufsTer? | |
| NM_001130978.1:c.5085del | NP_001124450.1:p.Phe1695LeufsTer? | |
| NM_001130979.1:c.5115del | NP_001124451.1:p.Phe1705LeufsTer? | |
| NM_001130980.1:c.5073del | NP_001124452.1:p.Phe1691LeufsTer? | |
| NM_001130981.1:c.5136del | NP_001124453.1:p.Phe1712LeufsTer? | |
| NM_001130982.1:c.5118del | NP_001124454.1:p.Phe1706LeufsTer? | |
| NM_001130983.1:c.5088del | NP_001124455.1:p.Phe1696LeufsTer? | |
| NM_001130984.1:c.5046del | NP_001124456.1:p.Phe1682LeufsTer? | |
| NM_001130985.1:c.5076del | NP_001124457.1:p.Phe1692LeufsTer? | |
| NM_001130986.1:c.4983del | NP_001124458.1:p.Phe1661LeufsTer? | |
| NM_001130987.1:c.5139del | NP_001124459.1:p.Phe1713LeufsTer? | |
| NM_003494.3:c.5022del | NP_003485.1:p.Phe1674LeufsTer? | |
| XM_005264584.3:c.5181del | XP_005264641.1:p.Phe1727LeufsTer? | |
| XM_005264585.3:c.5178del | XP_005264642.1:p.Phe1726LeufsTer? | |
| XM_005264584.4:c.5181del | XP_005264641.1:p.Phe1727LeufsTer? | |
| XM_005264585.5:c.5178del | XP_005264642.1:p.Phe1726LeufsTer? | |
| XR_001738969.1:n.5339del | ||
| NM_001130987.2:c.5139del MANE Select | NP_001124459.1:p.Phe1713LeufsTer? | |
| NM_001130455.2:c.5025del | NP_001123927.1:p.Phe1675LeufsTer? | |
| NM_001130976.2:c.4980del | NP_001124448.1:p.Phe1660LeufsTer? | |
| NM_001130977.2:c.5043del | NP_001124449.1:p.Phe1681LeufsTer? | |
| NM_001130978.2:c.5085del | NP_001124450.1:p.Phe1695LeufsTer? | |
| NM_001130979.2:c.5115del | NP_001124451.1:p.Phe1705LeufsTer? | |
| NM_001130980.2:c.5073del | NP_001124452.1:p.Phe1691LeufsTer? | |
| NM_001130981.2:c.5136del | NP_001124453.1:p.Phe1712LeufsTer? | |
| NM_001130982.2:c.5118del | NP_001124454.1:p.Phe1706LeufsTer? | |
| NM_001130983.2:c.5088del | NP_001124455.1:p.Phe1696LeufsTer? | |
| NM_001130984.2:c.5046del | NP_001124456.1:p.Phe1682LeufsTer? | |
| NM_001130985.2:c.5076del | NP_001124457.1:p.Phe1692LeufsTer? | |
| NM_001130986.2:c.4983del | NP_001124458.1:p.Phe1661LeufsTer? | |
| NM_003494.4:c.5022del MANE Plus Clinical | NP_003485.1:p.Phe1674LeufsTer? |