Linked Data
dbSNP Id:
rs1691800479
gnomAD v3:
2-232533999-G-C
gnomAD v4:
2-232533999-G-C
MyVariant Identifiers:
chr2:g.233398709G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232533999G>C , CM000664.2:g.232533999G>C | GRCh38 |
| NC_000002.11:g.233398709G>C , CM000664.1:g.233398709G>C | GRCh37 |
| NC_000002.10:g.233106953G>C | NCBI36 |
| NG_008028.1:g.12788G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1116G>C MANE Select | ENSP00000258385.3:p.Gly372= | |
| ENST00000258385.7:c.1116G>C | ENSP00000258385.3:p.Gly372= | |
| ENST00000441621.6:c.*298G>C | ENSP00000408819.2:n.*298G>C | |
| ENST00000446616.1:c.*757G>C | ENSP00000410801.1:n.*757G>C | |
| ENST00000543200.5:c.1071G>C | ENSP00000438380.1:p.Gly357= | |
| NM_000751.2:c.1116G>C | NP_000742.1:p.Gly372= | |
| NM_001256657.1:c.1071G>C | NP_001243586.1:p.Gly357= | |
| NM_001311195.1:c.534G>C | NP_001298124.1:p.Gly178= | |
| NM_001311196.1:c.813G>C | NP_001298125.1:p.Gly271= | |
| NR_046333.1:c.-4294966435G>C | ||
| NR_046334.1:c.-4294966156G>C | ||
| XM_011510524.1:c.735G>C | XP_011508826.1:p.Gly245= | |
| XM_011510524.2:c.735G>C | XP_011508826.1:p.Gly245= | |
| NM_000751.3:c.1116G>C MANE Select | NP_000742.1:p.Gly372= | |
| NM_001311195.2:c.534G>C | NP_001298124.1:p.Gly178= | |
| NM_001311196.2:c.813G>C | NP_001298125.1:p.Gly271= | |
| NM_001256657.2:c.1071G>C | NP_001243586.1:p.Gly357= |