Linked Data
dbSNP Id:
rs1564905061
gnomAD v2:
11-18266981-GCCC-G
gnomAD v4:
11-18245434-GCCC-G
MyVariant Identifiers:
chr11:g.18266982_18266984del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18245436_18245438del , CM000673.2:g.18245436_18245438del | GRCh38 |
| NC_000011.9:g.18266983_18266985del , CM000673.1:g.18266983_18266985del | GRCh37 |
| NC_000011.8:g.18223559_18223561del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256733.9:c.309_311del (SAA2) MANE Select | ENSP00000256733.5:p.Trp103_Gly104delinsCys | |
| ENST00000256733.8:c.309_311del (SAA2) | ENSP00000256733.4:p.Trp103_Gly104delinsCys | |
| ENST00000414546.6:c.230+473_230+475del (SAA2) | ENSP00000416716.2:n.230+473_230+475del | |
| ENST00000524555.3:c.230+473_230+475del (SAA2-SAA4) | ENSP00000485552.1:n.230+473_230+475del | |
| ENST00000526900.1:c.309_311del (SAA2) | ENSP00000436126.1:p.Trp103_Gly104delinsCys | |
| ENST00000528349.5:c.230+473_230+475del (SAA2) | ENSP00000435659.1:n.230+473_230+475del | |
| ENST00000529528.5:c.309_311del (SAA2) | ENSP00000437162.1:p.Trp103_Gly104delinsCys | |
| ENST00000530400.5:c.230+473_230+475del (SAA2) | ENSP00000432370.1:n.230+473_230+475del | |
| NM_001127380.2:c.230+473_230+475del (SAA2) | NP_001120852.1:n.230+473_230+475del | |
| NM_001199744.1:c.230+473_230+475del (SAA2-SAA4) | NP_001186673.1:n.230+473_230+475del | |
| NM_030754.4:c.309_311del (SAA2) | NP_110381.2:p.Trp103_Gly104delinsCys | |
| NM_001127380.3:c.230+473_230+475del (SAA2) | NP_001120852.1:n.230+473_230+475del | |
| NM_001199744.2:c.230+473_230+475del (SAA2-SAA4) | NP_001186673.1:n.230+473_230+475del | |
| NM_030754.5:c.309_311del (SAA2) MANE Select | NP_110381.2:p.Trp103_Gly104delinsCys | |
| NM_001385666.1:c.309_311del (SAA2) | NP_001372595.1:p.Trp103_Gly104delinsCys | |
| NM_001385667.1:c.230+473_230+475del (SAA2) | NP_001372596.1:n.230+473_230+475del | |
| NM_001385668.1:c.170_172del (SAA2) | NP_001372597.1:p.Gly57del | |
| NM_001385669.1:c.231-114_231-112del (SAA2) | NP_001372598.1:n.231-114_231-112del | |
| NM_001385670.1:c.231-15_231-13del (SAA2) | NP_001372599.1:n.231-15_231-13del | |
| NM_001385671.1:c.207_209del (SAA2) | NP_001372600.1:p.Trp69_Gly70delinsCys | |
| NM_001385672.1:c.230+473_230+475del (SAA2) | NP_001372601.1:n.230+473_230+475del | |
| NM_001385673.1:c.77_79del (SAA2) | NP_001372602.1:p.Gly26del | |
| NR_169749.1:n.300+473_300+475del (SAA2) | ||
| NR_169750.1:n.161+2484_161+2486del (SAA2) |