Linked Data
dbSNP Id:
rs1575014996
gnomAD v4:
2-219421486-C-T
MyVariant Identifiers:
chr2:g.220286208C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421486C>T , CM000664.2:g.219421486C>T | GRCh38 |
| NC_000002.11:g.220286208C>T , CM000664.1:g.220286208C>T | GRCh37 |
| NC_000002.10:g.219994452C>T | NCBI36 |
| NG_008043.1:g.8110C>T , LRG_380:g.8110C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.644C>T | ||
| ENST00000683013.1:n.558C>T | ||
| ENST00000373960.4:c.1170C>T MANE Select | ENSP00000363071.3:p.Asp390= | |
| ENST00000373960.3:c.1170C>T | ENSP00000363071.3:p.Asp390= | |
| ENST00000477226.5:n.642C>T | ||
| ENST00000492726.1:n.565C>T | ||
| NM_001927.3:c.1170C>T , LRG_380t1:c.1170C>T | NP_001918.3:p.Asp390= | |
| NM_001927.4:c.1170C>T MANE Select | NP_001918.3:p.Asp390= | |
| NM_001382708.1:c.1167C>T | NP_001369637.1:p.Asp389= | |
| NM_001382709.1:c.738C>T | NP_001369638.1:p.Asp246= | |
| NM_001382710.1:c.1101C>T | NP_001369639.1:p.Asp367= | |
| NM_001382711.1:c.1149C>T | NP_001369640.1:p.Asp383= | |
| NM_001382712.1:c.1170C>T | NP_001369641.1:p.Asp390= | |
| NM_001382713.1:c.900C>T | NP_001369642.1:p.Asp300= |