Linked Data
ClinVar Variation Id:
2900987
ClinVar RCV Id:
RCV003760331
gnomAD v4:
2-38075200-C-G
MyVariant Identifiers:
chr2:g.38302343C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075200C>G , CM000664.2:g.38075200C>G | GRCh38 |
| NC_000002.11:g.38302343C>G , CM000664.1:g.38302343C>G | GRCh37 |
| NC_000002.10:g.38155847C>G | NCBI36 |
| NG_008386.2:g.5902G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.189G>C | ENSP00000478839.2:p.Ala63= | |
| ENST00000610745.5:c.189G>C MANE Select | ENSP00000478561.1:p.Ala63= | |
| ENST00000490576.1:c.189G>C | ENSP00000478839.1:p.Ala63= | |
| ENST00000494864.1:c.-70-3890G>C | ENSP00000479876.1:n.-70-3890G>C | |
| ENST00000610745.4:c.189G>C | ENSP00000478561.1:p.Ala63= | |
| ENST00000613082.1:n.375+580G>C | ||
| ENST00000614273.1:c.189G>C | ENSP00000483678.1:p.Ala63= | |
| NM_000104.3:c.189G>C | NP_000095.2:p.Ala63= | |
| NM_000104.4:c.189G>C MANE Select | NP_000095.2:p.Ala63= |