Linked Data
dbSNP Id:
rs1559043135
gnomAD v2:
2-170115351-A-T
gnomAD v3:
2-169258841-A-T
gnomAD v4:
2-169258841-A-T
MyVariant Identifiers:
chr2:g.170115351_170115352delinsTT (hg19)
chr2:g.169258841_169258842delinsTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169258841A>T , CM000664.2:g.169258841A>T | GRCh38 |
| NC_000002.11:g.170115351A>T , CM000664.1:g.170115351A>T | GRCh37 |
| NC_000002.10:g.169823597A>T | NCBI36 |
| NG_012634.1:g.108772T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.2513+184T>A MANE Select | ENSP00000496870.1:n.2513+184T>A | |
| ENST00000263816.7:c.2513+184T>A | ENSP00000263816.3:n.2513+184T>A | |
| ENST00000443831.1:c.2102+184T>A | ENSP00000409813.1:n.2102+184T>A | |
| NM_004525.2:c.2513+184T>A | NP_004516.2:n.2513+184T>A | |
| XM_011511183.1:c.2513+184T>A | XP_011509485.1:n.2513+184T>A | |
| XM_011511184.1:c.224+184T>A | XP_011509486.1:n.224+184T>A | |
| XM_011511185.1:c.2513+184T>A | XP_011509487.1:n.2513+184T>A | |
| NM_004525.3:c.2513+184T>A MANE Select | NP_004516.2:n.2513+184T>A | |
| XM_011511183.3:c.2513+184T>A | XP_011509485.1:n.2513+184T>A | |
| XM_011511184.2:c.224+184T>A | XP_011509486.1:n.224+184T>A |