Linked Data
ClinVar Variation Id:
1116052
ClinVar RCV Id:
RCV001444277
dbSNP Id:
rs2106427547
gnomAD v4:
2-240869214-C-T
MyVariant Identifiers:
chr2:g.241808631C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869214C>T , CM000664.2:g.240869214C>T | GRCh38 |
| NC_000002.11:g.241808631C>T , CM000664.1:g.241808631C>T | GRCh37 |
| NC_000002.10:g.241457304C>T | NCBI36 |
| NG_008005.1:g.5470C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.210C>T MANE Select | ENSP00000302620.3:p.Thr70= | |
| ENST00000307503.3:c.210C>T | ENSP00000302620.3:p.Thr70= | |
| ENST00000472436.1:n.230C>T | ||
| NM_000030.2:c.210C>T | NP_000021.1:p.Thr70= | |
| XR_924060.1:n.405+1019G>A | ||
| NM_000030.3:c.210C>T MANE Select | NP_000021.1:p.Thr70= |