Linked Data
dbSNP Id:
rs749779855
ExAC:
2:157186263 G / GGTC
gnomAD v2:
2-157186263-G-GGTC
gnomAD v4:
2-156329751-G-GGTC
MyVariant Identifiers:
chr2:g.157186263_157186264insGTC (hg19)
chr2:g.156329751_156329752insGTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156329755_156329757dup , CM000664.2:g.156329755_156329757dup | GRCh38 |
| NC_000002.11:g.157186267_157186269dup , CM000664.1:g.157186267_157186269dup | GRCh37 |
| NC_000002.10:g.156894513_156894515dup | NCBI36 |
| NG_011821.1:g.8022_8024dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421709.2:c.244_246dup | ENSP00000388120.2:p.Asp82_Pro83insAsp | |
| ENST00000700228.1:c.304_306dup | ENSP00000514865.1:p.Asp102_Pro103insAsp | |
| ENST00000700231.1:c.433_435dup | ENSP00000514868.1:p.Asp145_Pro146insAsp | |
| ENST00000339562.9:c.433_435dup MANE Select | ENSP00000344479.4:p.Asp145_Pro146insAsp | |
| ENST00000675870.1:c.244_246dup | ENSP00000502739.1:p.Asp82_Pro83insAsp | |
| ENST00000339562.8:c.433_435dup | ENSP00000344479.4:p.Asp145_Pro146insAsp | |
| ENST00000406048.2:c.208+160_208+162dup | ||
| ENST00000409108.6:c.433_435dup | ENSP00000386993.2:p.Asp145_Pro146insAsp | |
| ENST00000409572.5:c.433_435dup | ENSP00000386747.1:p.Asp145_Pro146insAsp | |
| ENST00000417764.5:c.244_246dup | ENSP00000415632.1:p.Asp82_Pro83insAsp | |
| ENST00000417972.5:c.244_246dup | ENSP00000394671.1:p.Asp82_Pro83insAsp | |
| ENST00000421709.1:c.244_246dup | ENSP00000388120.1:p.Asp82_Pro83insAsp | |
| ENST00000424077.1:c.433_435dup | ENSP00000406808.1:p.Asp145_Pro146insAsp | |
| ENST00000426264.5:c.244_246dup | ENSP00000389986.1:p.Asp82_Pro83insAsp | |
| ENST00000429376.5:c.244_246dup | ENSP00000410952.1:p.Asp82_Pro83insAsp | |
| NM_006186.3:c.433_435dup | NP_006177.1:p.Asp145_Pro146insAsp | |
| XM_005246621.2:c.466_468dup | XP_005246678.1:p.Asp156_Pro157insAsp | |
| XM_005246622.2:c.244_246dup | XP_005246679.1:p.Asp82_Pro83insAsp | |
| XM_005246623.1:c.244_246dup | XP_005246680.1:p.Asp82_Pro83insAsp | |
| XM_006712553.2:c.466_468dup | XP_006712616.1:p.Asp156_Pro157insAsp | |
| XM_011511246.1:c.466_468dup | XP_011509548.1:p.Asp156_Pro157insAsp | |
| XR_427087.2:n.2639_2641dup | ||
| NM_173173.2:c.244_246dup | NP_775265.1:p.Asp82_Pro83insAsp | |
| XM_005246621.4:c.466_468dup | XP_005246678.1:p.Asp156_Pro157insAsp | |
| XM_006712553.4:c.466_468dup | XP_006712616.1:p.Asp156_Pro157insAsp | |
| XM_011511246.2:c.466_468dup | XP_011509548.1:p.Asp156_Pro157insAsp | |
| XM_017004219.2:c.433_435dup | XP_016859708.1:p.Asp145_Pro146insAsp | |
| XM_017004220.2:c.433_435dup | XP_016859709.1:p.Asp145_Pro146insAsp | |
| XR_001738751.2:n.801_803dup | ||
| XR_001738752.2:n.623_625dup | ||
| XR_427087.4:n.680_682dup | ||
| NM_006186.4:c.433_435dup MANE Select | NP_006177.1:p.Asp145_Pro146insAsp | |
| NM_173173.3:c.244_246dup | NP_775265.1:p.Asp82_Pro83insAsp |