Linked Data
dbSNP Id:
rs2053055973
gnomAD v4:
2-215344838-G-A
MyVariant Identifiers:
chr2:g.216209561G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215344838G>A , CM000664.2:g.215344838G>A | GRCh38 |
| NC_000002.11:g.216209561G>A , CM000664.1:g.216209561G>A | GRCh37 |
| NC_000002.10:g.215917806G>A | NCBI36 |
| NG_013002.1:g.37883G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236959.14:c.1287G>A MANE Select | ENSP00000236959.9:p.Gln429= | |
| ENST00000236959.13:c.1287G>A | ENSP00000236959.9:p.Gln429= | |
| ENST00000426233.1:c.292G>A | ||
| ENST00000435675.5:c.1284G>A | ENSP00000415935.1:p.Gln428= | |
| ENST00000443953.5:c.*1384G>A | ENSP00000406792.1:n.*1384G>A | |
| ENST00000446622.5:n.367G>A | ||
| ENST00000459796.1:n.98G>A | ||
| ENST00000467388.1:n.199G>A | ||
| ENST00000479093.5:n.202G>A | ||
| NM_004044.6:c.1287G>A | NP_004035.2:p.Gln429= | |
| XM_017004187.2:c.1287G>A | XP_016859676.1:p.Gln429= | |
| XM_024452919.1:c.1110G>A | XP_024308687.1:p.Gln370= | |
| NM_004044.7:c.1287G>A MANE Select | NP_004035.2:p.Gln429= |