Linked Data
dbSNP Id:
rs1451852303
ExAC:
2:220037559 C / G
gnomAD v2:
2-220037559-C-G
gnomAD v4:
2-219172837-C-G
MyVariant Identifiers:
chr2:g.220037559C>G (hg19)
chr2:g.220037559_220037560delinsGA (hg19)
chr2:g.219172837C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219172837C>G , CM000664.2:g.219172837C>G | GRCh38 |
| NC_000002.11:g.220037559C>G , CM000664.1:g.220037559C>G | GRCh37 |
| NC_000002.10:g.219745803C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360507.10:c.982G>C MANE Select | ENSP00000353698.5:p.Ala328Pro | |
| ENST00000360507.9:c.982G>C | ENSP00000353698.5:p.Ala328Pro | |
| ENST00000409789.5:c.982G>C | ENSP00000386277.1:p.Ala328Pro | |
| NM_015680.4:c.982G>C | NP_056495.3:p.Ala328Pro | |
| XM_005246462.2:c.982G>C | XP_005246519.1:p.Ala328Pro | |
| XM_005246463.3:c.982G>C | XP_005246520.1:p.Ala328Pro | |
| XM_006712419.1:c.982G>C | XP_006712482.1:p.Ala328Pro | |
| NM_001321389.1:c.982G>C | NP_001308318.1:p.Ala328Pro | |
| NM_001321390.1:c.982G>C | NP_001308319.1:p.Ala328Pro | |
| NM_001321391.1:c.982G>C | NP_001308320.1:p.Ala328Pro | |
| NM_015680.5:c.982G>C | NP_056495.3:p.Ala328Pro | |
| NR_135628.1:n.1027G>C | ||
| NR_135629.1:n.1085G>C | ||
| XM_024452790.1:c.1012G>C | XP_024308558.1:p.Ala338Pro | |
| NM_015680.6:c.982G>C MANE Select | NP_056495.4:p.Ala328Pro | |
| NM_001321390.2:c.982G>C | NP_001308319.2:p.Ala328Pro | |
| NM_001321391.2:c.982G>C | NP_001308320.2:p.Ala328Pro | |
| NR_135628.2:n.1010G>C | ||
| NR_135629.2:n.1017G>C | ||
| NM_001321389.2:c.982G>C | NP_001308318.2:p.Ala328Pro |