Linked Data
dbSNP Id:
rs1553327758
gnomAD v3:
2-31567456-G-GTATA
gnomAD v4:
2-31567456-G-GTATA
MyVariant Identifiers:
chr2:g.31792526_31792527insTATA (hg19)
chr2:g.31567456_31567457insTATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31567470_31567473dup , CM000664.2:g.31567470_31567473dup | GRCh38 |
| NC_000002.11:g.31792540_31792543dup , CM000664.1:g.31792540_31792543dup | GRCh37 |
| NC_000002.10:g.31646044_31646047dup | NCBI36 |
| NG_008365.1:g.18512_18515dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.281+13160_281+13163dup MANE Select | ENSP00000477587.1:n.281+13160_281+13163dup | |
| ENST00000622030.1:c.281+13160_281+13163dup | ENSP00000477587.1:n.281+13160_281+13163dup | |
| NM_000348.3:c.281+13160_281+13163dup | NP_000339.2:n.281+13160_281+13163dup | |
| XM_011533068.1:c.281+13160_281+13163dup | XP_011531370.1:n.281+13160_281+13163dup | |
| XM_011533070.1:c.27-33694_27-33691dup | XP_011531372.1:n.27-33694_27-33691dup | |
| XM_011533071.1:c.27-33694_27-33691dup | XP_011531373.1:n.27-33694_27-33691dup | |
| XM_011533072.1:c.27-33694_27-33691dup | XP_011531374.1:n.27-33694_27-33691dup | |
| XM_011533072.2:c.27-33694_27-33691dup | XP_011531374.1:n.27-33694_27-33691dup | |
| NM_000348.4:c.281+13160_281+13163dup MANE Select | NP_000339.2:n.281+13160_281+13163dup |