Linked Data
dbSNP Id:
rs1700373263
gnomAD v4:
2-215011548-G-A
MyVariant Identifiers:
chr2:g.215876272G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215011548G>A , CM000664.2:g.215011548G>A | GRCh38 |
| NC_000002.11:g.215876272G>A , CM000664.1:g.215876272G>A | GRCh37 |
| NC_000002.10:g.215584517G>A | NCBI36 |
| NG_007074.1:g.131880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.2223C>T MANE Select | ENSP00000272895.7:p.Ala741= | |
| ENST00000272895.11:c.2223C>T | ENSP00000272895.7:p.Ala741= | |
| ENST00000389661.4:c.1269C>T | ENSP00000374312.4:p.Ala423= | |
| NM_015657.3:c.1269C>T | NP_056472.2:p.Ala423= | |
| NM_173076.2:c.2223C>T | NP_775099.2:p.Ala741= | |
| NR_103740.1:n.2467C>T | ||
| XM_011510951.1:c.2223C>T | XP_011509253.1:p.Ala741= | |
| XM_011510952.1:c.2223C>T | XP_011509254.1:p.Ala741= | |
| XM_011510951.2:c.2223C>T | XP_011509253.1:p.Ala741= | |
| NM_173076.3:c.2223C>T MANE Select | NP_775099.2:p.Ala741= | |
| NR_103740.2:n.2665C>T | ||
| NM_015657.4:c.1269C>T | NP_056472.2:p.Ala423= |