Linked Data
dbSNP Id:
rs1691356060
gnomAD v3:
2-206127917-A-G
gnomAD v4:
2-206127917-A-G
MyVariant Identifiers:
chr2:g.206992641A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206127917A>G , CM000664.2:g.206127917A>G | GRCh38 |
| NC_000002.11:g.206992641A>G , CM000664.1:g.206992641A>G | GRCh37 |
| NC_000002.10:g.206700886A>G | NCBI36 |
| NG_009248.1:g.36547T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.1764T>C MANE Select | ENSP00000233190.5:p.Ala588= | |
| ENST00000233190.10:c.1764T>C | ENSP00000233190.5:p.Ala588= | |
| ENST00000423725.5:c.1593T>C | ENSP00000397760.1:p.Ala531= | |
| ENST00000432169.5:c.1431T>C | ENSP00000409689.1:p.Ala477= | |
| ENST00000440274.5:c.1656T>C | ENSP00000409766.1:p.Ala552= | |
| ENST00000449699.5:c.1764T>C | ENSP00000399912.1:p.Ala588= | |
| ENST00000455934.6:c.1806T>C | ENSP00000392709.2:p.Ala602= | |
| ENST00000457011.5:c.1416T>C | ENSP00000400976.1:p.Ala472= | |
| ENST00000498520.1:n.236T>C | ||
| NM_001199981.1:c.1656T>C | NP_001186910.1:p.Ala552= | |
| NM_001199982.1:c.1431T>C | NP_001186911.1:p.Ala477= | |
| NM_001199983.1:c.1593T>C | NP_001186912.1:p.Ala531= | |
| NM_001199984.1:c.1806T>C | NP_001186913.1:p.Ala602= | |
| NM_005006.6:c.1764T>C | NP_004997.4:p.Ala588= | |
| XM_017004188.2:c.1005T>C | XP_016859677.1:p.Ala335= | |
| NM_001199981.2:c.1656T>C | NP_001186910.1:p.Ala552= | |
| NM_001199982.2:c.1431T>C | NP_001186911.1:p.Ala477= | |
| NM_001199983.2:c.1593T>C | NP_001186912.1:p.Ala531= | |
| NM_005006.7:c.1764T>C MANE Select | NP_004997.4:p.Ala588= | |
| NM_001199984.2:c.1806T>C | NP_001186913.1:p.Ala602= |