Linked Data
dbSNP Id:
rs1692099014
gnomAD v3:
2-206144924-G-A
gnomAD v4:
2-206144924-G-A
MyVariant Identifiers:
chr2:g.207009648G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206144924G>A , CM000664.2:g.206144924G>A | GRCh38 |
| NC_000002.11:g.207009648G>A , CM000664.1:g.207009648G>A | GRCh37 |
| NC_000002.10:g.206717893G>A | NCBI36 |
| NG_009248.1:g.19540C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.840C>T MANE Select | ENSP00000233190.5:p.Asp280= | |
| ENST00000233190.10:c.840C>T | ENSP00000233190.5:p.Asp280= | |
| ENST00000423725.5:c.669C>T | ENSP00000397760.1:p.Asp223= | |
| ENST00000432169.5:c.507C>T | ENSP00000409689.1:p.Asp169= | |
| ENST00000440274.5:c.732C>T | ENSP00000409766.1:p.Asp244= | |
| ENST00000449699.5:c.840C>T | ENSP00000399912.1:p.Asp280= | |
| ENST00000455934.6:c.882C>T | ENSP00000392709.2:p.Asp294= | |
| ENST00000457011.5:c.492C>T | ENSP00000400976.1:p.Asp164= | |
| NM_001199981.1:c.732C>T | NP_001186910.1:p.Asp244= | |
| NM_001199982.1:c.507C>T | NP_001186911.1:p.Asp169= | |
| NM_001199983.1:c.669C>T | NP_001186912.1:p.Asp223= | |
| NM_001199984.1:c.882C>T | NP_001186913.1:p.Asp294= | |
| NM_005006.6:c.840C>T | NP_004997.4:p.Asp280= | |
| XM_017004188.2:c.81C>T | XP_016859677.1:p.Asp27= | |
| NM_001199981.2:c.732C>T | NP_001186910.1:p.Asp244= | |
| NM_001199982.2:c.507C>T | NP_001186911.1:p.Asp169= | |
| NM_001199983.2:c.669C>T | NP_001186912.1:p.Asp223= | |
| NM_005006.7:c.840C>T MANE Select | NP_004997.4:p.Asp280= | |
| NM_001199984.2:c.882C>T | NP_001186913.1:p.Asp294= |