Linked Data
ClinVar Variation Id:
2993544
ClinVar RCV Id:
RCV003850639
gnomAD v4:
2-214980603-A-G
MyVariant Identifiers:
chr2:g.215845327A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214980603A>G , CM000664.2:g.214980603A>G | GRCh38 |
| NC_000002.11:g.215845327A>G , CM000664.1:g.215845327A>G | GRCh37 |
| NC_000002.10:g.215553572A>G | NCBI36 |
| NG_007074.1:g.162825T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.4620T>C MANE Select | ENSP00000272895.7:p.Ala1540= | |
| ENST00000272895.11:c.4620T>C | ENSP00000272895.7:p.Ala1540= | |
| ENST00000389661.4:c.3666T>C | ENSP00000374312.4:p.Ala1222= | |
| NM_015657.3:c.3666T>C | NP_056472.2:p.Ala1222= | |
| NM_173076.2:c.4620T>C | NP_775099.2:p.Ala1540= | |
| NR_103740.1:n.4920T>C | ||
| XM_011510951.1:c.4629T>C | XP_011509253.1:p.Ala1543= | |
| XM_011510952.1:c.4629T>C | XP_011509254.1:p.Ala1543= | |
| XM_011510951.2:c.4629T>C | XP_011509253.1:p.Ala1543= | |
| NM_173076.3:c.4620T>C MANE Select | NP_775099.2:p.Ala1540= | |
| NR_103740.2:n.5118T>C | ||
| NM_015657.4:c.3666T>C | NP_056472.2:p.Ala1222= |