Linked Data
ClinVar Variation Id:
3230296
ClinVar RCV Id:
RCV004520447
gnomAD v4:
2-189006975-T-C
MyVariant Identifiers:
chr2:g.189871701T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189006975T>C , CM000664.2:g.189006975T>C | GRCh38 |
| NC_000002.11:g.189871701T>C , CM000664.1:g.189871701T>C | GRCh37 |
| NC_000002.10:g.189579946T>C | NCBI36 |
| NG_007404.1:g.37603T>C , LRG_3:g.37603T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3141T>C | ENSP00000415346.2:p.Gly1047= | |
| ENST00000304636.9:c.3240T>C MANE Select | ENSP00000304408.4:p.Gly1080= | |
| ENST00000304636.7:c.3240T>C | ENSP00000304408.3:p.Gly1080= | |
| ENST00000317840.9:c.2528-1079T>C | ENSP00000315243.6:n.2528-1079T>C | |
| NM_000090.3:c.3240T>C , LRG_3t1:c.3240T>C | NP_000081.1:p.Gly1080= | |
| NM_000090.4:c.3240T>C MANE Select | NP_000081.2:p.Gly1080= |