Linked Data
dbSNP Id:
rs2053055886
gnomAD v3:
2-215344832-C-T
gnomAD v4:
2-215344832-C-T
MyVariant Identifiers:
chr2:g.216209555C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215344832C>T , CM000664.2:g.215344832C>T | GRCh38 |
| NC_000002.11:g.216209555C>T , CM000664.1:g.216209555C>T | GRCh37 |
| NC_000002.10:g.215917800C>T | NCBI36 |
| NG_013002.1:g.37877C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236959.14:c.1281C>T MANE Select | ENSP00000236959.9:p.Tyr427= | |
| ENST00000236959.13:c.1281C>T | ENSP00000236959.9:p.Tyr427= | |
| ENST00000426233.1:c.286C>T | ||
| ENST00000435675.5:c.1278C>T | ENSP00000415935.1:p.Tyr426= | |
| ENST00000443953.5:c.*1378C>T | ENSP00000406792.1:n.*1378C>T | |
| ENST00000446622.5:n.361C>T | ||
| ENST00000459796.1:n.92C>T | ||
| ENST00000467388.1:n.193C>T | ||
| ENST00000479093.5:n.196C>T | ||
| NM_004044.6:c.1281C>T | NP_004035.2:p.Tyr427= | |
| XM_017004187.2:c.1281C>T | XP_016859676.1:p.Tyr427= | |
| XM_024452919.1:c.1104C>T | XP_024308687.1:p.Tyr368= | |
| NM_004044.7:c.1281C>T MANE Select | NP_004035.2:p.Tyr427= |