Linked Data
dbSNP Id:
rs146946229
ExAC:
11:18266942 G / A
gnomAD v2:
11-18266942-G-A
gnomAD v3:
11-18245395-G-A
gnomAD v4:
11-18245395-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18245395G>A , CM000673.2:g.18245395G>A | GRCh38 |
| NC_000011.9:g.18266942G>A , CM000673.1:g.18266942G>A | GRCh37 |
| NC_000011.8:g.18223518G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256733.9:c.351C>T (SAA2) MANE Select | ENSP00000256733.5:p.Gly117= | |
| ENST00000256733.8:c.351C>T (SAA2) | ENSP00000256733.4:p.Gly117= | |
| ENST00000414546.6:c.230+515C>T (SAA2) | ENSP00000416716.2:n.230+515C>T | |
| ENST00000524555.3:c.230+515C>T (SAA2-SAA4) | ENSP00000485552.1:n.230+515C>T | |
| ENST00000526900.1:c.351C>T (SAA2) | ENSP00000436126.1:p.Gly117= | |
| ENST00000528349.5:c.230+515C>T (SAA2) | ENSP00000435659.1:n.230+515C>T | |
| ENST00000529528.5:c.351C>T (SAA2) | ENSP00000437162.1:p.Gly117= | |
| ENST00000530400.5:c.230+515C>T (SAA2) | ENSP00000432370.1:n.230+515C>T | |
| NM_001127380.2:c.230+515C>T (SAA2) | NP_001120852.1:n.230+515C>T | |
| NM_001199744.1:c.230+515C>T (SAA2-SAA4) | NP_001186673.1:n.230+515C>T | |
| NM_030754.4:c.351C>T (SAA2) | NP_110381.2:p.Gly117= | |
| NM_001127380.3:c.230+515C>T (SAA2) | NP_001120852.1:n.230+515C>T | |
| NM_001199744.2:c.230+515C>T (SAA2-SAA4) | NP_001186673.1:n.230+515C>T | |
| NM_030754.5:c.351C>T (SAA2) MANE Select | NP_110381.2:p.Gly117= | |
| NM_001385666.1:c.351C>T (SAA2) | NP_001372595.1:p.Gly117= | |
| NM_001385667.1:c.230+515C>T (SAA2) | NP_001372596.1:n.230+515C>T | |
| NM_001385668.1:c.212C>T (SAA2) | NP_001372597.1:p.Ala71Val | |
| NM_001385669.1:c.231-72C>T (SAA2) | NP_001372598.1:n.231-72C>T | |
| NM_001385670.1:c.258C>T (SAA2) | NP_001372599.1:p.Gly86= | |
| NM_001385671.1:c.249C>T (SAA2) | NP_001372600.1:p.Gly83= | |
| NM_001385672.1:c.230+515C>T (SAA2) | NP_001372601.1:n.230+515C>T | |
| NM_001385673.1:c.119C>T (SAA2) | NP_001372602.1:p.Ala40Val | |
| NR_169749.1:n.300+515C>T (SAA2) | ||
| NR_169750.1:n.161+2526C>T (SAA2) |