Linked Data
dbSNP Id:
rs1217388
gnomAD v2:
1-114364476-G-A
gnomAD v3:
1-113821854-G-A
gnomAD v4:
1-113821854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113821854G>A , CM000663.2:g.113821854G>A | GRCh38 |
| NC_000001.10:g.114364476G>A , CM000663.1:g.114364476G>A | GRCh37 |
| NC_000001.9:g.114165999G>A | NCBI36 |
| NG_011432.1:g.54900C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359785.10:c.2282-2200C>T (PTPN22) MANE Select | ENSP00000352833.5:n.2282-2200C>T | |
| ENST00000359785.9:c.2282-2200C>T (PTPN22) | ENSP00000352833.5:n.2282-2200C>T | |
| ENST00000420377.6:c.2282-2200C>T (PTPN22) | ENSP00000388229.2:n.2282-2200C>T | |
| ENST00000460620.5:c.469-2200C>T (PTPN22) | ENSP00000433141.1:n.469-2200C>T | |
| ENST00000525799.1:c.1901-2200C>T (PTPN22) | ENSP00000432674.1:n.1901-2200C>T | |
| ENST00000528414.5:c.2117-2200C>T (PTPN22) | ENSP00000435176.1:n.2117-2200C>T | |
| ENST00000532224.5:c.*1560-2200C>T (PTPN22) | ENSP00000431249.1:n.*1560-2200C>T | |
| ENST00000538253.5:c.2210-2200C>T (PTPN22) | ENSP00000439372.2:n.2210-2200C>T | |
| NM_001193431.1:c.2198-2200C>T (PTPN22) | NP_001180360.1:n.2198-2200C>T | |
| NM_001193431.2:c.2198-2200C>T (PTPN22) | NP_001180360.1:n.2198-2200C>T | |
| NM_001308297.1:c.2210-2200C>T (PTPN22) | NP_001295226.1:n.2210-2200C>T | |
| NM_012411.4:c.2117-2200C>T (PTPN22) | NP_036543.4:n.2117-2200C>T | |
| NM_012411.5:c.2117-2200C>T (PTPN22) | NP_036543.4:n.2117-2200C>T | |
| NM_015967.5:c.2282-2200C>T (PTPN22) | NP_057051.3:n.2282-2200C>T | |
| NM_015967.6:c.2282-2200C>T (PTPN22) | NP_057051.3:n.2282-2200C>T | |
| NR_125965.1:n.414+6382G>A (AP4B1-AS1) | ||
| XM_011541221.1:c.2204-2200C>T (PTPN22) | XP_011539523.1:n.2204-2200C>T | |
| XM_011541222.1:c.2251-2200C>T (PTPN22) | XP_011539524.1:n.2251-2200C>T | |
| XM_011541224.1:c.1838-2200C>T (PTPN22) | XP_011539526.1:n.1838-2200C>T | |
| XM_011541225.1:c.2179-2200C>T (PTPN22) | XP_011539527.1:n.2179-2200C>T | |
| XM_011541225.2:c.2179-2200C>T (PTPN22) | XP_011539527.1:n.2179-2200C>T | |
| XM_017001005.2:c.1937-2200C>T (PTPN22) | XP_016856494.1:n.1937-2200C>T | |
| NM_015967.7:c.2282-2200C>T (PTPN22) | NP_057051.3:n.2282-2200C>T | |
| NM_015967.8:c.2282-2200C>T (PTPN22) MANE Select | NP_057051.4:n.2282-2200C>T |