gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45329192 (SAS)
Genomes Max Group AF
0.4534334 (SAS)
Exomes Max Group AF
0.21281298 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109930396G>A , CM000674.2:g.109930396G>A | GRCh38 |
| NC_000012.11:g.110368201G>A , CM000674.1:g.110368201G>A | GRCh37 |
| NC_000012.10:g.108852584G>A | NCBI36 |
| NG_029885.1:g.70994C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355312.8:c.*2582C>T (GIT2) MANE Select | ENSP00000347464.3:n.*2582C>T | |
| ENST00000354574.8:c.*2582C>T (GIT2) | ENSP00000346585.4:n.*2582C>T | |
| ENST00000355312.7:c.4862C>T (GIT2) | ENSP00000347464.3:n.4862C>T | |
| ENST00000361006.9:c.*2582C>T (GIT2) | ENSP00000354282.5:n.*2582C>T | |
| ENST00000457474.6:c.*2582C>T (GIT2) | ENSP00000391813.2:n.*2582C>T | |
| ENST00000544838.5:c.*88-2501G>A (TCHP) | ENSP00000440838.1:n.*88-2501G>A | |
| ENST00000549524.1:n.552G>A (TCHP) | ||
| NM_001135213.1:c.*2582C>T (GIT2) | NP_001128685.1:n.*2582C>T | |
| NM_001135214.1:c.*2582C>T (GIT2) | NP_001128686.1:n.*2582C>T | |
| NM_014776.3:c.*2582C>T (GIT2) | NP_055591.2:n.*2582C>T | |
| NM_057169.3:c.*2582C>T (GIT2) | NP_476510.1:n.*2582C>T | |
| NM_057170.3:c.*2582C>T (GIT2) | NP_476511.1:n.*2582C>T | |
| XM_005253997.2:c.*2582C>T (GIT2) | XP_005254054.1:n.*2582C>T | |
| XM_005254000.2:c.*2582C>T (GIT2) | XP_005254057.1:n.*2582C>T | |
| XM_006719707.2:c.*2582C>T (GIT2) | XP_006719770.1:n.*2582C>T | |
| XM_006719708.2:c.*2582C>T (GIT2) | XP_006719771.1:n.*2582C>T | |
| XM_006719709.2:c.*2582C>T (GIT2) | XP_006719772.1:n.*2582C>T | |
| XM_006719712.2:c.*2582C>T (GIT2) | XP_006719775.1:n.*2582C>T | |
| NM_001135213.2:c.*2582C>T (GIT2) | NP_001128685.1:n.*2582C>T | |
| NM_001135214.2:c.*2582C>T (GIT2) | NP_001128686.1:n.*2582C>T | |
| NM_001330153.1:c.*2582C>T (GIT2) | NP_001317082.1:n.*2582C>T | |
| NM_014776.4:c.*2582C>T (GIT2) | NP_055591.2:n.*2582C>T | |
| NM_057169.4:c.*2582C>T (GIT2) | NP_476510.1:n.*2582C>T | |
| NM_057170.4:c.*2582C>T (GIT2) | NP_476511.1:n.*2582C>T | |
| XM_005253997.4:c.*2582C>T (GIT2) | XP_005254054.1:n.*2582C>T | |
| XM_006719707.4:c.*2582C>T (GIT2) | XP_006719770.1:n.*2582C>T | |
| XM_006719708.4:c.*2582C>T (GIT2) | XP_006719771.1:n.*2582C>T | |
| XM_006719712.4:c.*2582C>T (GIT2) | XP_006719775.1:n.*2582C>T | |
| XM_017020258.2:c.*2582C>T (GIT2) | XP_016875747.1:n.*2582C>T | |
| XM_017020259.2:c.*2781C>T (GIT2) | XP_016875748.1:n.*2781C>T | |
| XM_017020260.2:c.*2781C>T (GIT2) | XP_016875749.1:n.*2781C>T | |
| NM_057169.5:c.*2582C>T (GIT2) MANE Select | NP_476510.1:n.*2582C>T | |
| NM_001135213.3:c.*2582C>T (GIT2) | NP_001128685.1:n.*2582C>T | |
| NM_001135214.3:c.*2582C>T (GIT2) | NP_001128686.1:n.*2582C>T | |
| NM_001330153.2:c.*2582C>T (GIT2) | NP_001317082.1:n.*2582C>T | |
| NM_014776.5:c.*2582C>T (GIT2) | NP_055591.2:n.*2582C>T | |
| NM_057170.5:c.*2582C>T (GIT2) | NP_476511.1:n.*2582C>T |