Linked Data
dbSNP Id:
rs1697189153
gnomAD v4:
2-55679791-T-C
MyVariant Identifiers:
chr2:g.55906926T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55679791T>C , CM000664.2:g.55679791T>C | GRCh38 |
| NC_000002.11:g.55906926T>C , CM000664.1:g.55906926T>C | GRCh37 |
| NC_000002.10:g.55760430T>C | NCBI36 |
| NG_033012.1:g.19120A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000447944.7:c.570A>G MANE Select | ENSP00000400646.2:p.Ala190= | |
| ENST00000260604.8:c.*125A>G | ENSP00000260604.4:n.*125A>G | |
| ENST00000415374.5:c.570A>G | ENSP00000393953.1:p.Ala190= | |
| ENST00000429805.1:c.*218A>G | ENSP00000411994.1:n.*218A>G | |
| ENST00000447944.6:c.570A>G | ENSP00000400646.2:p.Ala190= | |
| NM_033109.4:c.570A>G | NP_149100.2:p.Ala190= | |
| XM_005264629.1:c.330A>G | XP_005264686.1:p.Ala110= | |
| XM_011533142.1:c.570A>G | XP_011531444.1:p.Ala190= | |
| XM_005264629.2:c.330A>G | XP_005264686.1:p.Ala110= | |
| XM_017005172.1:c.330A>G | XP_016860661.1:p.Ala110= | |
| XR_001739010.1:n.600A>G | ||
| NM_033109.5:c.570A>G MANE Select | NP_149100.2:p.Ala190= |