Linked Data
dbSNP Id:
rs752092226
ExAC:
2:157435551 T / TTC
gnomAD v2:
2-157435551-T-TTC
gnomAD v4:
2-156579039-T-TTC
MyVariant Identifiers:
chr2:g.157435551_157435552insTC (hg19)
chr2:g.156579039_156579040insTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156579040_156579041insCT , CM000664.2:g.156579040_156579041insCT | GRCh38 |
| NC_000002.11:g.157435552_157435553insCT , CM000664.1:g.157435552_157435553insCT | GRCh37 |
| NC_000002.10:g.157143798_157143799insCT | NCBI36 |
| NG_016606.1:g.148588_148589insCT | |
| NG_016606.2:g.148588_148589insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438166.7:c.1880+39_1880+40insCT MANE Select | ENSP00000409708.2:n.1880+39_1880+40insCT | |
| ENST00000310454.10:c.1880+39_1880+40insCT | ENSP00000308610.5:n.1880+39_1880+40insCT | |
| ENST00000409125.8:c.1502+39_1502+40insCT | ENSP00000386484.5:n.1502+39_1502+40insCT | |
| ENST00000409674.5:c.1880+39_1880+40insCT | ENSP00000386425.1:n.1880+39_1880+40insCT | |
| ENST00000409861.5:c.1880+39_1880+40insCT | ENSP00000386626.1:n.1880+39_1880+40insCT | |
| ENST00000438166.6:c.1880+39_1880+40insCT | ENSP00000409708.2:n.1880+39_1880+40insCT | |
| ENST00000464846.5:n.273_274insCT | ||
| ENST00000540309.5:c.1135-46_1135-45insCT | ENSP00000440892.1:n.1135-46_1135-45insCT | |
| NM_000408.4:c.1880+39_1880+40insCT | NP_000399.3:n.1880+39_1880+40insCT | |
| NM_001083112.2:c.1880+39_1880+40insCT | NP_001076581.2:n.1880+39_1880+40insCT | |
| XM_005246469.1:c.1880+39_1880+40insCT | XP_005246526.1:n.1880+39_1880+40insCT | |
| XM_005246470.3:c.1778+39_1778+40insCT | XP_005246527.1:n.1778+39_1778+40insCT | |
| XM_011510977.1:c.1880+39_1880+40insCT | XP_011509279.1:n.1880+39_1880+40insCT | |
| XM_011510978.1:c.1778+39_1778+40insCT | XP_011509280.1:n.1778+39_1778+40insCT | |
| XM_011510979.1:c.1502+39_1502+40insCT | XP_011509281.1:n.1502+39_1502+40insCT | |
| XM_011510980.1:c.1199+39_1199+40insCT | XP_011509282.1:n.1199+39_1199+40insCT | |
| XM_005246469.2:c.1880+39_1880+40insCT | XP_005246526.1:n.1880+39_1880+40insCT | |
| XM_011510977.2:c.1880+39_1880+40insCT | XP_011509279.1:n.1880+39_1880+40insCT | |
| XM_011510978.2:c.1778+39_1778+40insCT | XP_011509280.1:n.1778+39_1778+40insCT | |
| XM_017003830.1:c.1880+39_1880+40insCT | XP_016859319.1:n.1880+39_1880+40insCT | |
| XM_024452798.1:c.1880+39_1880+40insCT | XP_024308566.1:n.1880+39_1880+40insCT | |
| NM_000408.5:c.1880+39_1880+40insCT MANE Select | NP_000399.3:n.1880+39_1880+40insCT | |
| NM_001083112.3:c.1880+39_1880+40insCT | NP_001076581.2:n.1880+39_1880+40insCT |