Linked Data
ClinVar Variation Id:
183299
ClinVar RCV Id:
RCV000162120
dbSNP Id:
rs730882212
ExAC:
2:130951772 G / A
gnomAD v2:
2-130951772-G-A
gnomAD v3:
2-130194199-G-A
gnomAD v4:
2-130194199-G-A
MyVariant Identifiers:
chr2:g.130951772G>A (hg19)
chr2:g.130951772_130951773delinsAC (hg19)
chr2:g.130194199G>A (hg38)
chr2:g.130194199_130194200delinsAC (hg38)
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.130194199G>A , CM000664.2:g.130194199G>A | GRCh38 |
| NC_000002.11:g.130951772G>A , CM000664.1:g.130951772G>A | GRCh37 |
| NC_000002.10:g.130668242G>A | NCBI36 |
| NG_051288.1:g.9263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312988.9:c.643C>T (TUBA3E) MANE Select | ENSP00000318197.7:p.Arg215Cys | |
| ENST00000312988.8:c.643C>T (TUBA3E) | ENSP00000318197.7:p.Arg215Cys | |
| NM_207312.2:c.643C>T (TUBA3E) | NP_997195.1:p.Arg215Cys | |
| XM_011511889.1:c.419-8126G>A (MZT2B) | XP_011510191.1:n.419-8126G>A | |
| NM_207312.3:c.643C>T (TUBA3E) MANE Select | NP_997195.2:p.Arg215Cys |