Linked Data
dbSNP Id:
rs750420092
ExAC:
2:206992614 G / GAC
gnomAD v2:
2-206992614-G-GAC
gnomAD v4:
2-206127890-G-GAC
MyVariant Identifiers:
chr2:g.206992614_206992615insAC (hg19)
chr2:g.206127890_206127891insAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206127892_206127893dup , CM000664.2:g.206127892_206127893dup | GRCh38 |
| NC_000002.11:g.206992616_206992617dup , CM000664.1:g.206992616_206992617dup | GRCh37 |
| NC_000002.10:g.206700861_206700862dup | NCBI36 |
| NG_009248.1:g.36572_36573dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.1789_1790dup MANE Select | ENSP00000233190.5:p.Asn598SerfsTer12 | |
| ENST00000233190.10:c.1789_1790dup | ENSP00000233190.5:p.Asn598SerfsTer12 | |
| ENST00000423725.5:c.1618_1619dup | ENSP00000397760.1:p.Asn541SerfsTer12 | |
| ENST00000432169.5:c.1456_1457dup | ENSP00000409689.1:p.Asn487SerfsTer12 | |
| ENST00000440274.5:c.1681_1682dup | ENSP00000409766.1:p.Asn562SerfsTer12 | |
| ENST00000449699.5:c.1789_1790dup | ENSP00000399912.1:p.Asn598SerfsTer12 | |
| ENST00000455934.6:c.1831_1832dup | ENSP00000392709.2:p.Asn612SerfsTer12 | |
| ENST00000457011.5:c.1441_1442dup | ENSP00000400976.1:p.Asn482SerfsTer12 | |
| ENST00000498520.1:n.261_262dup | ||
| NM_001199981.1:c.1681_1682dup | NP_001186910.1:p.Asn562SerfsTer12 | |
| NM_001199982.1:c.1456_1457dup | NP_001186911.1:p.Asn487SerfsTer12 | |
| NM_001199983.1:c.1618_1619dup | NP_001186912.1:p.Asn541SerfsTer12 | |
| NM_001199984.1:c.1831_1832dup | NP_001186913.1:p.Asn612SerfsTer12 | |
| NM_005006.6:c.1789_1790dup | NP_004997.4:p.Asn598SerfsTer12 | |
| XM_017004188.2:c.1030_1031dup | XP_016859677.1:p.Asn345SerfsTer12 | |
| NM_001199981.2:c.1681_1682dup | NP_001186910.1:p.Asn562SerfsTer12 | |
| NM_001199982.2:c.1456_1457dup | NP_001186911.1:p.Asn487SerfsTer12 | |
| NM_001199983.2:c.1618_1619dup | NP_001186912.1:p.Asn541SerfsTer12 | |
| NM_005006.7:c.1789_1790dup MANE Select | NP_004997.4:p.Asn598SerfsTer12 | |
| NM_001199984.2:c.1831_1832dup | NP_001186913.1:p.Asn612SerfsTer12 |