Linked Data
ClinVar Variation Id:
2916542
ClinVar RCV Id:
RCV003601954
dbSNP Id:
rs118204047
gnomAD v4:
2-149579643-G-T
MyVariant Identifiers:
chr2:g.150436157G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149579643G>T , CM000664.2:g.149579643G>T | GRCh38 |
| NC_000002.11:g.150436157G>T , CM000664.1:g.150436157G>T | GRCh37 |
| NC_000002.10:g.150144403G>T | NCBI36 |
| NG_009189.1:g.13174C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303319.10:c.160C>A MANE Select | ENSP00000301920.5:p.Arg54= | |
| ENST00000303319.9:c.160C>A | ENSP00000301920.5:p.Arg54= | |
| ENST00000422782.2:c.160C>A | ENSP00000408331.2:p.Arg54= | |
| ENST00000428879.5:c.160C>A | ENSP00000389060.1:p.Arg54= | |
| NM_015702.2:c.160C>A | NP_056517.1:p.Arg54= | |
| NM_015702.3:c.160C>A MANE Select | NP_056517.1:p.Arg54= |