Linked Data
dbSNP Id:
rs2125167527
gnomAD v4:
2-219420259-T-C
MyVariant Identifiers:
chr2:g.220284981T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420259T>C , CM000664.2:g.219420259T>C | GRCh38 |
| NC_000002.11:g.220284981T>C , CM000664.1:g.220284981T>C | GRCh37 |
| NC_000002.10:g.219993225T>C | NCBI36 |
| NG_008043.1:g.6883T>C , LRG_380:g.6883T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.122T>C | ||
| ENST00000683013.1:n.36T>C | ||
| ENST00000373960.4:c.648T>C MANE Select | ENSP00000363071.3:p.Asp216= | |
| ENST00000373960.3:c.648T>C | ENSP00000363071.3:p.Asp216= | |
| ENST00000477226.5:n.120T>C | ||
| ENST00000492726.1:n.43T>C | ||
| NM_001927.3:c.648T>C , LRG_380t1:c.648T>C | NP_001918.3:p.Asp216= | |
| NM_001927.4:c.648T>C MANE Select | NP_001918.3:p.Asp216= | |
| NM_001382708.1:c.645T>C | NP_001369637.1:p.Asp215= | |
| NM_001382709.1:c.648T>C | NP_001369638.1:p.Asp216= | |
| NM_001382710.1:c.648T>C | NP_001369639.1:p.Asp216= | |
| NM_001382711.1:c.648T>C | NP_001369640.1:p.Asp216= | |
| NM_001382712.1:c.648T>C | NP_001369641.1:p.Asp216= | |
| NM_001382713.1:c.496-266T>C | NP_001369642.1:n.496-266T>C |