Linked Data
ClinVar Variation Id:
3044894
ClinVar RCV Id:
RCV003942037
dbSNP Id:
rs138932100
ExAC:
6:169622491 G / A
gnomAD v2:
6-169622491-G-A
gnomAD v3:
6-169222396-G-A
gnomAD v4:
6-169222396-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.169222396G>A , CM000668.2:g.169222396G>A | GRCh38 |
| NC_000006.11:g.169622491G>A , CM000668.1:g.169622491G>A | GRCh37 |
| NC_000006.10:g.169364416G>A | NCBI36 |
| NG_022911.1:g.36647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617924.6:c.3074C>T (THBS2) MANE Select | ENSP00000482784.1:p.Ala1025Val | |
| ENST00000649844.1:c.3089C>T (THBS2) | ENSP00000497834.1:p.Ala1030Val | |
| ENST00000676498.1:c.3074C>T (THBS2) | ENSP00000504820.1:p.Ala1025Val | |
| ENST00000676628.1:c.2900C>T (THBS2) | ENSP00000504416.1:p.Ala967Val | |
| ENST00000676760.1:c.3074C>T (THBS2) | ENSP00000503020.1:p.Ala1025Val | |
| ENST00000676869.1:c.2903C>T (THBS2) | ENSP00000504488.1:p.Ala968Val | |
| ENST00000676941.1:c.2183C>T (THBS2) | ENSP00000503028.1:p.Ala728Val | |
| ENST00000677429.1:c.*2440C>T (THBS2) | ENSP00000503286.1:n.*2440C>T | |
| ENST00000678378.1:n.2459C>T (THBS2) | ||
| ENST00000366787.7:c.3074C>T (THBS2) | ENSP00000355751.3:p.Ala1025Val | |
| ENST00000488355.1:n.266C>T (THBS2) | ||
| ENST00000617924.4:c.3074C>T (THBS2) | ENSP00000482784.1:p.Ala1025Val | |
| NM_003247.3:c.3074C>T (THBS2) | NP_003238.2:p.Ala1025Val | |
| XR_943307.1:n.681+7909G>A (THBS2-AS1) | ||
| NR_134621.1:n.681+7909G>A (THBS2-AS1) | ||
| NM_003247.4:c.3074C>T (THBS2) | NP_003238.2:p.Ala1025Val | |
| NM_001381939.1:c.2900C>T (THBS2) | NP_001368868.1:p.Ala967Val | |
| NM_001381942.1:c.2843C>T (THBS2) | NP_001368871.1:p.Ala948Val | |
| NM_003247.5:c.3074C>T (THBS2) MANE Select | NP_003238.2:p.Ala1025Val | |
| NR_167744.1:n.3219C>T (THBS2) | ||
| NR_167745.1:n.3348C>T (THBS2) |