Linked Data
ClinVar Variation Id:
1554906
ClinVar RCV Id:
RCV002192577
dbSNP Id:
rs2148168619
COSMIC:
COSM4927049
MyVariant Identifiers:
chr2:g.29445233G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29222367G>A , CM000664.2:g.29222367G>A | GRCh38 |
| NC_000002.11:g.29445233G>A , CM000664.1:g.29445233G>A | GRCh37 |
| NC_000002.10:g.29298737G>A | NCBI36 |
| NG_009445.1:g.704200C>T , LRG_488:g.704200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3492C>T MANE Select | ENSP00000373700.3:p.Phe1164= | |
| ENST00000431873.6:c.719C>T | ||
| ENST00000638605.1:n.369C>T | ||
| ENST00000642122.1:c.288C>T | ENSP00000493203.1:p.Phe96= | |
| ENST00000389048.7:c.3492C>T | ENSP00000373700.3:p.Phe1164= | |
| ENST00000431873.5:c.372C>T | ENSP00000414027.2:p.Phe124= | |
| ENST00000453137.1:c.186C>T | ENSP00000387488.1:p.Phe62= | |
| ENST00000618119.4:c.2361C>T | ENSP00000482733.1:p.Phe787= | |
| NM_004304.4:c.3492C>T | NP_004295.2:p.Phe1164= | |
| NM_001353765.1:c.288C>T | NP_001340694.1:p.Phe96= | |
| XM_024452778.1:c.645C>T | XP_024308546.1:p.Phe215= | |
| XM_024452779.1:c.288C>T | XP_024308547.1:p.Phe96= | |
| NM_004304.5:c.3492C>T MANE Select | NP_004295.2:p.Phe1164= | |
| NM_001353765.2:c.288C>T | NP_001340694.1:p.Phe96= |