Linked Data
ClinVar Variation Id:
2749514
ClinVar RCV Id:
RCV003568461
gnomAD v4:
2-240878722-G-T
MyVariant Identifiers:
chr2:g.241818139G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878722G>T , CM000664.2:g.240878722G>T | GRCh38 |
| NC_000002.11:g.241818139G>T , CM000664.1:g.241818139G>T | GRCh37 |
| NC_000002.10:g.241466812G>T | NCBI36 |
| NG_008005.1:g.14978G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1080G>T MANE Select | ENSP00000302620.3:p.Arg360= | |
| ENST00000307503.3:c.1080G>T | ENSP00000302620.3:p.Arg360= | |
| ENST00000470255.1:n.858G>T | ||
| NM_000030.2:c.1080G>T | NP_000021.1:p.Arg360= | |
| NM_000030.3:c.1080G>T MANE Select | NP_000021.1:p.Arg360= |