Linked Data
ClinVar Variation Id:
1774871
ClinVar RCV Id:
RCV002403195
gnomAD v4:
2-73572320-G-A
MyVariant Identifiers:
chr2:g.73799447G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572320G>A , CM000664.2:g.73572320G>A | GRCh38 |
| NC_000002.11:g.73799447G>A , CM000664.1:g.73799447G>A | GRCh37 |
| NC_000002.10:g.73652955G>A | NCBI36 |
| NG_011690.1:g.191568G>A , LRG_741:g.191568G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10062G>A | ENSP00000507671.1:p.Lys3354= | |
| ENST00000682801.1:c.10062G>A | ENSP00000507862.1:p.Lys3354= | |
| ENST00000682859.1:c.10062G>A | ENSP00000508222.1:p.Lys3354= | |
| ENST00000683791.1:c.3148G>A | ||
| ENST00000684460.1:c.7343G>A | ||
| ENST00000684548.1:c.10062G>A | ENSP00000507421.1:p.Lys3354= | |
| ENST00000684590.1:c.4509G>A | ENSP00000507376.1:p.Lys1503= | |
| ENST00000684656.1:c.7388G>A | ||
| ENST00000613296.6:c.10443G>A MANE Select | ENSP00000482968.1:p.Lys3481= | |
| ENST00000651057.1:c.597G>A | ENSP00000498504.1:p.Lys199= | |
| ENST00000651434.1:c.1799G>A | ||
| ENST00000652487.1:c.1540G>A | ||
| ENST00000423048.5:c.3934G>A | ENSP00000399833.1:n.3934G>A | |
| ENST00000484298.5:c.10317G>A | ENSP00000478155.1:p.Lys3439= | |
| ENST00000613296.4:c.10443G>A | ENSP00000482968.1:p.Lys3481= | |
| ENST00000614410.4:c.10443G>A | ENSP00000479094.1:p.Lys3481= | |
| ENST00000620466.4:n.4246G>A | ||
| NM_015120.4:c.10446G>A , LRG_741t1:c.10446G>A | NP_055935.4:p.Lys3482= | |
| NM_001378454.1:c.10443G>A MANE Select | NP_001365383.1:p.Lys3481= |