Linked Data
dbSNP Id:
rs1691115981
gnomAD v4:
2-206122214-A-G
MyVariant Identifiers:
chr2:g.206986938A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206122214A>G , CM000664.2:g.206122214A>G | GRCh38 |
| NC_000002.11:g.206986938A>G , CM000664.1:g.206986938A>G | GRCh37 |
| NC_000002.10:g.206695183A>G | NCBI36 |
| NG_009248.1:g.42250T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.*1971T>C MANE Select | ENSP00000233190.5:n.*1971T>C | |
| ENST00000233190.10:c.*1971T>C | ENSP00000233190.5:n.*1971T>C | |
| NM_001199981.2:c.*1971T>C | NP_001186910.1:n.*1971T>C | |
| NM_001199982.2:c.*1971T>C | NP_001186911.1:n.*1971T>C | |
| NM_001199983.2:c.*1971T>C | NP_001186912.1:n.*1971T>C | |
| NM_005006.7:c.*1971T>C MANE Select | NP_004997.4:n.*1971T>C | |
| NM_001199984.2:c.*1971T>C | NP_001186913.1:n.*1971T>C |