Linked Data
ClinVar Variation Id:
665546
ClinVar RCV Id:
RCV000823854
dbSNP Id:
rs534852056
gnomAD v4:
2-29220777-G-T
MyVariant Identifiers:
chr2:g.29443643G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220777G>T , CM000664.2:g.29220777G>T | GRCh38 |
| NC_000002.11:g.29443643G>T , CM000664.1:g.29443643G>T | GRCh37 |
| NC_000002.10:g.29297147G>T | NCBI36 |
| NG_009445.1:g.705790C>A , LRG_488:g.705790C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389048.8:c.3574C>A MANE Select | ENSP00000373700.3:p.Arg1192= | |
| ENST00000431873.6:c.801C>A | ||
| ENST00000638605.1:n.451C>A | ||
| ENST00000642122.1:c.370C>A | ENSP00000493203.1:p.Arg124= | |
| ENST00000389048.7:c.3574C>A | ENSP00000373700.3:p.Arg1192= | |
| ENST00000431873.5:c.454C>A | ENSP00000414027.2:p.Arg152= | |
| ENST00000618119.4:c.2443C>A | ENSP00000482733.1:p.Arg815= | |
| NM_004304.4:c.3574C>A | NP_004295.2:p.Arg1192= | |
| NM_001353765.1:c.370C>A | NP_001340694.1:p.Arg124= | |
| XM_024452778.1:c.727C>A | XP_024308546.1:p.Arg243= | |
| XM_024452779.1:c.370C>A | XP_024308547.1:p.Arg124= | |
| NM_004304.5:c.3574C>A MANE Select | NP_004295.2:p.Arg1192= | |
| NM_001353765.2:c.370C>A | NP_001340694.1:p.Arg124= |