Linked Data
dbSNP Id:
rs2148166624
gnomAD v4:
2-29220805-G-A
MyVariant Identifiers:
chr2:g.29443671G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220805G>A , CM000664.2:g.29220805G>A | GRCh38 |
| NC_000002.11:g.29443671G>A , CM000664.1:g.29443671G>A | GRCh37 |
| NC_000002.10:g.29297175G>A | NCBI36 |
| NG_009445.1:g.705762C>T , LRG_488:g.705762C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3546C>T MANE Select | ENSP00000373700.3:p.Cys1182= | |
| ENST00000431873.6:c.773C>T | ||
| ENST00000638605.1:n.423C>T | ||
| ENST00000642122.1:c.342C>T | ENSP00000493203.1:p.Cys114= | |
| ENST00000389048.7:c.3546C>T | ENSP00000373700.3:p.Cys1182= | |
| ENST00000431873.5:c.426C>T | ENSP00000414027.2:p.Cys142= | |
| ENST00000618119.4:c.2415C>T | ENSP00000482733.1:p.Cys805= | |
| NM_004304.4:c.3546C>T | NP_004295.2:p.Cys1182= | |
| NM_001353765.1:c.342C>T | NP_001340694.1:p.Cys114= | |
| XM_024452778.1:c.699C>T | XP_024308546.1:p.Cys233= | |
| XM_024452779.1:c.342C>T | XP_024308547.1:p.Cys114= | |
| NM_004304.5:c.3546C>T MANE Select | NP_004295.2:p.Cys1182= | |
| NM_001353765.2:c.342C>T | NP_001340694.1:p.Cys114= |