Linked Data
ClinVar Variation Id:
823955
dbSNP Id:
rs1573120317
gnomAD v4:
2-29220769-G-A
COSMIC:
COSM4490124
MyVariant Identifiers:
chr2:g.29443635G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220769G>A , CM000664.2:g.29220769G>A | GRCh38 |
| NC_000002.11:g.29443635G>A , CM000664.1:g.29443635G>A | GRCh37 |
| NC_000002.10:g.29297139G>A | NCBI36 |
| NG_009445.1:g.705798C>T , LRG_488:g.705798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3582C>T MANE Select | ENSP00000373700.3:p.Ile1194= | |
| ENST00000431873.6:c.809C>T | ||
| ENST00000638605.1:n.459C>T | ||
| ENST00000642122.1:c.378C>T | ENSP00000493203.1:p.Ile126= | |
| ENST00000389048.7:c.3582C>T | ENSP00000373700.3:p.Ile1194= | |
| ENST00000431873.5:c.462C>T | ENSP00000414027.2:p.Ile154= | |
| ENST00000618119.4:c.2451C>T | ENSP00000482733.1:p.Ile817= | |
| NM_004304.4:c.3582C>T | NP_004295.2:p.Ile1194= | |
| NM_001353765.1:c.378C>T | NP_001340694.1:p.Ile126= | |
| XM_024452778.1:c.735C>T | XP_024308546.1:p.Ile245= | |
| XM_024452779.1:c.378C>T | XP_024308547.1:p.Ile126= | |
| NM_004304.5:c.3582C>T MANE Select | NP_004295.2:p.Ile1194= | |
| NM_001353765.2:c.378C>T | NP_001340694.1:p.Ile126= |