Linked Data
dbSNP Id:
rs138424013
gnomAD v3:
2-210591904-T-C
gnomAD v4:
2-210591904-T-C
MyVariant Identifiers:
chr2:g.211456628T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210591904T>C , CM000664.2:g.210591904T>C | GRCh38 |
| NC_000002.11:g.211456628T>C , CM000664.1:g.211456628T>C | GRCh37 |
| NC_000002.10:g.211164873T>C | NCBI36 |
| NG_008285.1:g.119220T>C , LRG_336:g.119220T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233072.10:c.1021T>C MANE Select | ENSP00000233072.5:p.Leu341= | |
| ENST00000430249.7:c.1039T>C | ENSP00000402608.2:p.Leu347= | |
| ENST00000673510.1:c.1021T>C | ENSP00000500537.1:p.Leu341= | |
| ENST00000673630.1:c.1021T>C | ENSP00000501073.1:p.Leu341= | |
| ENST00000673711.1:c.1021T>C | ENSP00000501022.1:p.Leu341= | |
| ENST00000233072.9:c.1021T>C | ENSP00000233072.5:p.Leu341= | |
| ENST00000430249.6:c.1039T>C | ENSP00000402608.2:p.Leu347= | |
| ENST00000619804.1:c.1021T>C | ENSP00000480517.1:p.Leu341= | |
| NM_001122633.2:c.1039T>C | NP_001116105.1:p.Leu347= | |
| NM_001875.4:c.1021T>C , LRG_336t1:c.1021T>C | NP_001866.2:p.Leu341= | |
| XM_011510640.1:c.1054T>C | XP_011508942.1:p.Leu352= | |
| XM_011510641.1:c.1021T>C | XP_011508943.1:p.Leu341= | |
| XM_011510642.1:c.1021T>C | XP_011508944.1:p.Leu341= | |
| XM_011510643.1:c.1021T>C | XP_011508945.1:p.Leu341= | |
| XM_011510644.1:c.1021T>C | XP_011508946.1:p.Leu341= | |
| NM_001122633.3:c.1021T>C | NP_001116105.2:p.Leu341= | |
| NM_001369256.1:c.1054T>C | NP_001356185.1:p.Leu352= | |
| NM_001369257.1:c.1021T>C | NP_001356186.1:p.Leu341= | |
| NM_001875.5:c.1021T>C MANE Select | NP_001866.2:p.Leu341= | |
| NR_161225.1:n.1933T>C |