Linked Data
ClinVar Variation Id:
1732322
dbSNP Id:
rs2148166696
gnomAD v4:
2-29220823-G-A
MyVariant Identifiers:
chr2:g.29443689G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220823G>A , CM000664.2:g.29220823G>A | GRCh38 |
| NC_000002.11:g.29443689G>A , CM000664.1:g.29443689G>A | GRCh37 |
| NC_000002.10:g.29297193G>A | NCBI36 |
| NG_009445.1:g.705744C>T , LRG_488:g.705744C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3528C>T MANE Select | ENSP00000373700.3:p.His1176= | |
| ENST00000431873.6:c.755C>T | ||
| ENST00000638605.1:n.405C>T | ||
| ENST00000642122.1:c.324C>T | ENSP00000493203.1:p.His108= | |
| ENST00000389048.7:c.3528C>T | ENSP00000373700.3:p.His1176= | |
| ENST00000431873.5:c.408C>T | ENSP00000414027.2:p.His136= | |
| ENST00000618119.4:c.2397C>T | ENSP00000482733.1:p.His799= | |
| NM_004304.4:c.3528C>T | NP_004295.2:p.His1176= | |
| NM_001353765.1:c.324C>T | NP_001340694.1:p.His108= | |
| XM_024452778.1:c.681C>T | XP_024308546.1:p.His227= | |
| XM_024452779.1:c.324C>T | XP_024308547.1:p.His108= | |
| NM_004304.5:c.3528C>T MANE Select | NP_004295.2:p.His1176= | |
| NM_001353765.2:c.324C>T | NP_001340694.1:p.His108= |