COSMIC:
COSM4418125 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4391983 (AFR)
Genomes Max Group AF
0.43358737 (AFR)
Exomes Max Group AF
0.44249188 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78225120A>G , CM000673.2:g.78225120A>G | GRCh38 |
| NC_000011.9:g.77936166A>G , CM000673.1:g.77936166A>G | GRCh37 |
| NC_000011.8:g.77613814A>G | NCBI36 |
| NG_016171.1:g.197703T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361507.5:c.1290T>C (GAB2) MANE Select | ENSP00000354952.4:p.Val430= | |
| ENST00000340149.6:c.1176T>C (GAB2) | ENSP00000343959.2:p.Val392= | |
| ENST00000361507.4:c.1290T>C (GAB2) | ENSP00000354952.4:p.Val430= | |
| NM_012296.3:c.1176T>C (GAB2) | NP_036428.1:p.Val392= | |
| NM_080491.2:c.1290T>C (GAB2) | NP_536739.1:p.Val430= | |
| XM_006718753.1:c.1176T>C (GAB2) | XP_006718816.1:p.Val392= | |
| XM_011545408.1:c.630T>C (GAB2) | XP_011543710.1:p.Val210= | |
| XR_950117.1:n.1215T>C (GAB2) | ||
| XM_006718753.2:c.1176T>C (GAB2) | XP_006718816.1:p.Val392= | |
| XM_011545408.3:c.630T>C (GAB2) | XP_011543710.1:p.Val210= | |
| XM_024448782.1:c.1236T>C (GAB2) | XP_024304550.1:p.Val412= | |
| XR_001747928.1:n.3877A>G (USP35) | ||
| XR_001747930.1:n.4420A>G (USP35) | ||
| XR_001747931.1:n.3760A>G (USP35) | ||
| NM_080491.3:c.1290T>C (GAB2) MANE Select | NP_536739.1:p.Val430= | |
| NM_012296.4:c.1176T>C (GAB2) | NP_036428.1:p.Val392= |