UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
94344
dbSNP Id:
rs398123796
ExAC:
2:71901353 TGA / T
gnomAD v2:
2-71901353-TGA-T
gnomAD v3:
2-71674223-TGA-T
gnomAD v4:
2-71674223-TGA-T
MyVariant Identifiers:
chr2:g.71901357_71901358del (hg19)
chr2:g.71901354_71901355del (hg19)
chr2:g.71901357_71901358delAG (hg19)
chr2:g.71674227_71674228del (hg38)
chr2:g.71674224_71674225del (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71674227_71674228del , CM000664.2:g.71674227_71674228del | GRCh38 |
| NC_000002.11:g.71901357_71901358del , CM000664.1:g.71901357_71901358del | GRCh37 |
| NC_000002.10:g.71754865_71754866del | NCBI36 |
| NG_008694.1:g.225605_225606del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698057.1:c.3229_3230del | ENSP00000513536.1:p.Ser1077GlnfsTer14 | |
| ENST00000698058.1:c.2446_2447del | ENSP00000513537.1:p.Ser816GlnfsTer14 | |
| ENST00000698059.1:c.2554_2555del | ENSP00000513538.1:p.Ser852GlnfsTer14 | |
| ENST00000258104.8:c.5698_5699del MANE Plus Clinical | ENSP00000258104.3:p.Ser1900GlnfsTer14 | |
| ENST00000410020.8:c.5815_5816del MANE Select | ENSP00000386881.3:p.Ser1939GlnfsTer14 | |
| ENST00000258104.7:c.5698_5699del | ENSP00000258104.3:p.Ser1900GlnfsTer14 | |
| ENST00000394120.6:c.5701_5702del | ENSP00000377678.2:p.Ser1901GlnfsTer14 | |
| ENST00000409366.5:c.5764_5765del | ENSP00000386512.1:p.Ser1922GlnfsTer14 | |
| ENST00000409582.7:c.5812_5813del | ENSP00000386547.3:p.Ser1938GlnfsTer14 | |
| ENST00000409651.5:c.5794_5795del | ENSP00000386683.1:p.Ser1932GlnfsTer14 | |
| ENST00000409744.5:c.5722_5723del | ENSP00000386285.1:p.Ser1908GlnfsTer14 | |
| ENST00000409762.5:c.5749_5750del | ENSP00000387137.1:p.Ser1917GlnfsTer14 | |
| ENST00000410020.7:c.5815_5816del | ENSP00000386881.3:p.Ser1939GlnfsTer14 | |
| ENST00000410041.1:c.5752_5753del | ENSP00000386617.1:p.Ser1918GlnfsTer14 | |
| ENST00000413539.6:c.5791_5792del | ENSP00000407046.2:p.Ser1931GlnfsTer14 | |
| ENST00000429174.6:c.5761_5762del | ENSP00000398305.2:p.Ser1921GlnfsTer14 | |
| ENST00000479049.6:n.2583_2584del | ||
| NM_001130455.1:c.5701_5702del | NP_001123927.1:p.Ser1901GlnfsTer14 | |
| NM_001130976.1:c.5656_5657del | NP_001124448.1:p.Ser1886GlnfsTer14 | |
| NM_001130977.1:c.5719_5720del | NP_001124449.1:p.Ser1907GlnfsTer14 | |
| NM_001130978.1:c.5761_5762del | NP_001124450.1:p.Ser1921GlnfsTer14 | |
| NM_001130979.1:c.5791_5792del | NP_001124451.1:p.Ser1931GlnfsTer14 | |
| NM_001130980.1:c.5749_5750del | NP_001124452.1:p.Ser1917GlnfsTer14 | |
| NM_001130981.1:c.5812_5813del | NP_001124453.1:p.Ser1938GlnfsTer14 | |
| NM_001130982.1:c.5794_5795del | NP_001124454.1:p.Ser1932GlnfsTer14 | |
| NM_001130983.1:c.5764_5765del | NP_001124455.1:p.Ser1922GlnfsTer14 | |
| NM_001130984.1:c.5722_5723del | NP_001124456.1:p.Ser1908GlnfsTer14 | |
| NM_001130985.1:c.5752_5753del | NP_001124457.1:p.Ser1918GlnfsTer14 | |
| NM_001130986.1:c.5659_5660del | NP_001124458.1:p.Ser1887GlnfsTer14 | |
| NM_001130987.1:c.5815_5816del | NP_001124459.1:p.Ser1939GlnfsTer14 | |
| NM_003494.3:c.5698_5699del | NP_003485.1:p.Ser1900GlnfsTer14 | |
| XM_005264584.3:c.5857_5858del | XP_005264641.1:p.Ser1953GlnfsTer14 | |
| XM_005264585.3:c.5854_5855del | XP_005264642.1:p.Ser1952GlnfsTer14 | |
| XM_005264584.4:c.5857_5858del | XP_005264641.1:p.Ser1953GlnfsTer14 | |
| XM_005264585.5:c.5854_5855del | XP_005264642.1:p.Ser1952GlnfsTer14 | |
| NM_001130987.2:c.5815_5816del MANE Select | NP_001124459.1:p.Ser1939GlnfsTer14 | |
| NM_001130455.2:c.5701_5702del | NP_001123927.1:p.Ser1901GlnfsTer14 | |
| NM_001130976.2:c.5656_5657del | NP_001124448.1:p.Ser1886GlnfsTer14 | |
| NM_001130977.2:c.5719_5720del | NP_001124449.1:p.Ser1907GlnfsTer14 | |
| NM_001130978.2:c.5761_5762del | NP_001124450.1:p.Ser1921GlnfsTer14 | |
| NM_001130979.2:c.5791_5792del | NP_001124451.1:p.Ser1931GlnfsTer14 | |
| NM_001130980.2:c.5749_5750del | NP_001124452.1:p.Ser1917GlnfsTer14 | |
| NM_001130981.2:c.5812_5813del | NP_001124453.1:p.Ser1938GlnfsTer14 | |
| NM_001130982.2:c.5794_5795del | NP_001124454.1:p.Ser1932GlnfsTer14 | |
| NM_001130983.2:c.5764_5765del | NP_001124455.1:p.Ser1922GlnfsTer14 | |
| NM_001130984.2:c.5722_5723del | NP_001124456.1:p.Ser1908GlnfsTer14 | |
| NM_001130985.2:c.5752_5753del | NP_001124457.1:p.Ser1918GlnfsTer14 | |
| NM_001130986.2:c.5659_5660del | NP_001124458.1:p.Ser1887GlnfsTer14 | |
| NM_003494.4:c.5698_5699del MANE Plus Clinical | NP_003485.1:p.Ser1900GlnfsTer14 |