Linked Data
dbSNP Id:
rs773602610
ExAC:
6:169629756 G / A
gnomAD v2:
6-169629756-G-A
gnomAD v4:
6-169229661-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.169229661G>A , CM000668.2:g.169229661G>A | GRCh38 |
| NC_000006.11:g.169629756G>A , CM000668.1:g.169629756G>A | GRCh37 |
| NC_000006.10:g.169371681G>A | NCBI36 |
| NG_022911.1:g.29382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617924.6:c.2170C>T (THBS2) MANE Select | ENSP00000482784.1:p.Pro724Ser | |
| ENST00000649844.1:c.2185C>T (THBS2) | ENSP00000497834.1:p.Pro729Ser | |
| ENST00000676498.1:c.2170C>T (THBS2) | ENSP00000504820.1:p.Pro724Ser | |
| ENST00000676628.1:c.1996C>T (THBS2) | ENSP00000504416.1:p.Pro666Ser | |
| ENST00000676760.1:c.2170C>T (THBS2) | ENSP00000503020.1:p.Pro724Ser | |
| ENST00000676869.1:c.1999C>T (THBS2) | ENSP00000504488.1:p.Pro667Ser | |
| ENST00000676941.1:c.1279C>T (THBS2) | ENSP00000503028.1:p.Pro427Ser | |
| ENST00000677429.1:c.*1536C>T (THBS2) | ENSP00000503286.1:n.*1536C>T | |
| ENST00000678378.1:n.1555C>T (THBS2) | ||
| ENST00000366787.7:c.2170C>T (THBS2) | ENSP00000355751.3:p.Pro724Ser | |
| ENST00000617924.4:c.2170C>T (THBS2) | ENSP00000482784.1:p.Pro724Ser | |
| NM_003247.3:c.2170C>T (THBS2) | NP_003238.2:p.Pro724Ser | |
| XR_943307.1:n.682-9564G>A (THBS2-AS1) | ||
| NR_134621.1:n.682-9564G>A (THBS2-AS1) | ||
| NM_003247.4:c.2170C>T (THBS2) | NP_003238.2:p.Pro724Ser | |
| NM_001381939.1:c.1996C>T (THBS2) | NP_001368868.1:p.Pro666Ser | |
| NM_001381942.1:c.1939C>T (THBS2) | NP_001368871.1:p.Pro647Ser | |
| NM_003247.5:c.2170C>T (THBS2) MANE Select | NP_003238.2:p.Pro724Ser | |
| NR_167744.1:n.2315C>T (THBS2) | ||
| NR_167745.1:n.2444C>T (THBS2) |